Genepanel for nevromuskulære sykdommer

(1)

Genepanel for nevromuskulære sykdommer

Genpanel, versjon v02

* Enkelte genomiske regioner har lav eller ingen sekvensdekning ved eksomsekvensering. Dette skyldes at de har stor likhet med andre områder i genomet, slik at spesiﬁkk gjenkjennelse av disse områdene og påvisning av varianter i disse områdene, blir vanskelig og upålitelig. Disse genetiske regionene har vi identiﬁsert ved å benytte USCS segmental duplication hvor områder større enn 1 kb og ≥90% likhet med andre regioner i genomet, gjenkjennes

(https://genome.ucsc.edu).

For noen gener ligger alle ekson i områder med segmentale duplikasjoner: ATAD3A, GBA, MSTO1, SORD

Vi gjør oppmerksom på at ved identiﬁseringav ekson oppstrøms for startkodon kan eksonnummereringen endres uten at transkript ID endres.

Avdelingens websider har en full oversikt over områder som er aﬃsert av segmentale duplikasjoner.

** Transkriptets kodende ekson.

Gen (HGNC symbol)

Gen (HGNC ID)

Transkript

Ekson aﬃsert av

segdup*

Ekson** Fenotype

AAAS 13666 NM_015665.5 1-16 Achalasia-addisonianism-alacrimia syndrome OMIM

AARS 20 NM_001605.2 2-21 Charcot-Marie-Tooth disease, axonal, type 2N OMIM

Developmental and epileptic encephalopathy 29 OMIM ABCA1 29 NM_005502.3 2-50 Tangier disease OMIM

ABCD1 61 NM_000033.3 7-10 1-10 Adrenoleukodystrophy OMIM

Adrenomyeloneuropathy, adult OMIM ABHD12 15868 NM_001042472.2 1-13 Polyneuropathy, hearing loss, ataxia,

retinitis pigmentosa, and cataract OMIM

(2)

ACAD9 21497 NM_014049.5 1-18 Mitochondrial complex I deﬁciency, nuclear type 20 OMIM

ACADM 89 NM_000016.5 1-12 Acyl-CoA dehydrogenase, medium chain, deﬁciency of OMIM

ACADS 90 NM_000017.3 1-10 Acyl-CoA dehydrogenase, short-chain, deﬁciency of OMIM

ACADVL 92 NM_000018.3 1-20 VLCAD deﬁciency OMIM

ACTA1 129 NM_001100.4 2-7 ?Myopathy, scapulohumeroperoneal OMIM

Myopathy, actin, congenital, with cores OMIM

Myopathy, actin, congenital, with excess of thin myoﬁlaments OMIM Myopathy, congenital, with ﬁber-type disproportion 1 OMIM

Nemaline myopathy 3, autosomal dominant or recessive OMIM ACTG2 145 NM_001615.4 2-9 Visceral myopathy OMIM

ACTN2 164 NM_001103.3 1-21 Cardiomyopathy, dilated, 1AA, with or without LVNC OMIM

Cardiomyopathy, hypertrophic, 23, with or without LVNC OMIM

Myopathy, congenital with structured cores and Z-line abnormalitaaies OMIM Myopathy, distal, 6, adult onset OMIM ADAMTS10 13201 NM_030957.4 3-26 Weill-Marchesani syndrome 1,

recessive OMIM

ADCK3 16812 NM_020247.5 2-15 Coenzyme Q10 deﬁciency, primary, 4 OMIM

ADCY5 236 NM_183357.2 1-21 Dyskinesia, familial, with facial myokymia OMIM

ADSSL1 20093 NM_199165.2 1-13 Myopathy, distal, 5 OMIM

(3)

AFG3L2 315 NM_006796.2 14 1-17 Spastic ataxia 5, autosomal recessive OMIM

Spinocerebellar ataxia 28 OMIM AGL 321 NM_000642.2 2-34 Glycogen storage disease IIIa OMIM

Glycogen storage disease IIIb OMIM AGRN 329 NM_198576.3 1-36 Myasthenic syndrome, congenital, 8,

with pre- and postsynaptic defects OMIM

AGTPBP1 17258 NM_001286715.1 1-25 Neurodegeneration, childhood-onset, with cerebellar atrophy OMIM

AGXT 341 NM_000030.2 1-11 Hyperoxaluria, primary, type 1 OMIM

AHCY 343 NM_000687.4 1-10 Hypermethioninemia with deﬁciency of S-adenosylhomocysteine hydrolase OMIM

AIFM1 8768 NM_004208.3 1-16 Combined oxidative phosphorylation deﬁciency 6 OMIM

Cowchock syndrome OMIM Deafness, X-linked 5 OMIM

Spondyloepimetaphyseal dysplasia, X- linked, with hypomyelinating

leukodystrophy OMIM

ALDOA 414 NM_000034.3 7-14 Glycogen storage disease XII OMIM

ALG14 28287 NM_144988.4 1-4 ?Myasthenic syndrome, congenital, 15, without tubular aggregates OMIM Myopathy, epilepsy, and progressive cerebral atrophy OMIM

ALG2 23159 NM_033087.3 1-2 Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM

ALG3 23056 NM_005787.5 1-9 Congenital disorder of glycosylation, type Id OMIM

(4)

ALS2 443 NM_020919.3 2-34 Amyotrophic lateral sclerosis 2, juvenile OMIM

Primary lateral sclerosis, juvenile OMIM Spastic paralysis, infantile onset

ascending OMIM

AMACR 451 NM_014324.6 1-5 Alpha-methylacyl-CoA racemase deﬁciency OMIM

AMPD1 468 NM_000036.2 1-16 Myopathy due to myoadenylate deaminase deﬁciency OMIM AMPD2 469 NM_001257360.1 2-19 ?Spastic paraplegia 63 OMIM

Pontocerebellar hypoplasia, type 9 OMIM

ANO5 27337 NM_213599.2 1-22 Miyoshi muscular dystrophy 3 OMIM Muscular dystrophy, limb-girdle, autosomal recessive 12 OMIM

ANTXR2 21732 NM_058172.6 1-17 Hyaline ﬁbromatosis syndrome OMIM

AP1S1 559 NM_001283.4 1-5 MEDNIK syndrome OMIM

AP5Z1 22197 NM_014855.3 1-17 Spastic paraplegia 48, autosomal recessive OMIM

APOA1 600 NM_000039.2 2-4 Amyloidosis, 3 or more types OMIM

APTX 15984 NM_175073.2 3-9 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM AR 644 NM_000044.4 1-8 Spinal and bulbar muscular atrophy of

Kennedy OMIM

ARHGEF10 14103 NM_014629.3 2-29 ?Slowed nerve conduction velocity, AD OMIM

ARL6IP1 697 NM_015161.2 6 1-6 ?Spastic paraplegia 61, autosomal recessive OMIM

ARSA 713 NM_000487.5 1-8 Metachromatic leukodystrophy OMIM

(5)

ASAH1 735 NM_177924.3 1-14 Spinal muscular atrophy with

progressive myoclonic epilepsy OMIM ASCC1 24268 NM_001198800.3 2-10 Spinal muscular atrophy with

congenital bone fractures 2 OMIM ASXL1 18318 NM_015338.5 1-12 Bohring-Opitz syndrome OMIM

ATAD1 25903 NM_032810.3 10 2-10 Hyperekplexia 4 OMIM

ATAD3A 25567 NM_001170535.31-16 1-16 Harel-Yoon syndrome OMIM

Pontocerebellar hypoplasia, hypotonia, and respiratory insuﬃciency

syndrome, neonatal lethal OMIM ATL1 11231 NM_015915.4 1-14 Neuropathy, hereditary sensory, type

ID OMIM

Spastic paraplegia 3A, autosomal dominant OMIM

ATL3 24526 NM_015459.4 1-13 Neuropathy, hereditary sensory, type IF OMIM

ATM 795 NM_000051.3 2-63 Ataxia-telangiectasia OMIM

ATP1A1 799 NM_000701.8 1-23 Charcot-Marie-Tooth disease, axonal, type 2DD OMIM

Hypomagnesemia, seizures, and mental retardation 2 OMIM

ATP1A2 800 NM_000702.4 1-23 Alternating hemiplegia of childhood 1 OMIM

Migraine, familial basilar OMIM Migraine, familial hemiplegic, 2 OMIM ATP2A1 811 NM_173201.3 1-22 Brody myopathy OMIM

ATP7A 869 NM_000052.7 2-23 Menkes disease OMIM

Occipital horn syndrome OMIM Spinal muscular atrophy, distal, X- linked 3 OMIM

(6)

ATRX 886 NM_000489.5 1-35 Alpha-thalassemia/mental retardation syndrome OMIM

Mental retardation-hypotonic facies syndrome, X-linked OMIM

B3GALNT2 28596 NM_152490.4 1-12 Muscular dystrophy-

dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 OMIM

B3GNT1 15685 NM_006876.2 1-2 Muscular dystrophy-

dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 OMIM

B4GALNT1 4117 NM_001478.4 2-11 Spastic paraplegia 26, autosomal recessive OMIM

BAG3 939 NM_004281.3 1-4 Cardiomyopathy, dilated, 1HH OMIM Myopathy, myoﬁbrillar, 6 OMIM BCKDHB 987 NM_183050.2 1-10 Maple syrup urine disease, type Ib

OMIM

BICD2 17208 NM_001003800.1 1-7 Spinal muscular atrophy, lower

extremity-predominant, 2A, autosomal dominant OMIM

Spinal muscular atrophy, lower

extremity-predominant, 2B, autosomal dominant OMIM

BIN1 1052 NM_139343.2 1-19 Centronuclear myopathy 2 OMIM

BSCL2 15832 NM_032667.6 2-11 Encephalopathy, progressive, with or without lipodystrophy OMIM

Lipodystrophy, congenital generalized, type 2 OMIM

Neuropathy, distal hereditary motor, type VA OMIM

Silver spastic paraplegia syndrome OMIM

BVES 1152 NM_007073.4 2-8 Muscular dystrophy, limb-girdle, autosomal recessive 25 OMIM

(7)

C10orf2 1160 NM_021830.5 1-5 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) OMIM

Perrault syndrome 5 OMIM

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 OMIM

C12orf65 26784 NM_152269.4 2-3 Combined oxidative phosphorylation deﬁciency 7 OMIM

Spastic paraplegia 55, autosomal recessive OMIM

C19orf12 25443 NM_001031726.3 1-3 ?Spastic paraplegia 43, autosomal recessive OMIM

Neurodegeneration with brain iron accumulation 4 OMIM

CACNA1A 1388 NM_001127221.1 1-47 Developemental and epileptic encephalopahty 42 OMIM Episodic ataxia, type 2 OMIM

Migraine, familial hemiplegic, 1 OMIM Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia OMIM Spinocerebellar ataxia 6 OMIM CACNA1E 1392 NM_000721.3 1-47 Epileptic encephalopathy, early

infantile, 69 OMIM

CACNA1S 1397 NM_000069.2 1-44 {Malignant hyperthermia susceptibility 5} OMIM

{Malignant hyperthermia, susceptibility to, 5} OMIM

{Thyrotoxic periodic paralysis, susceptibility to, 1} OMIM

Hypokalemic periodic paralysis, type 1 OMIM

CAPN3 1480 NM_000070.3 1-24 Muscular dystrophy, limb-girdle, autosomal dominant 4 OMIM Muscular dystrophy, limb-girdle, autosomal recessive 1 OMIM

(8)

CASK 1497 NM_003688.3 1-27 Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM

CASQ1 1512 NM_001231.4 1-11 Myopathy, vacuolar, with CASQ1 aggregates OMIM

CAV3 1529 NM_033337.2 1-2 Cardiomyopathy, familial hypertrophic OMIM

Creatine phosphokinase, elevated serum OMIM

Long QT syndrome 9 OMIM

Myopathy, distal, Tateyama type OMIM Rippling muscle disease 2 OMIM

CCDC78 14153 NM_001031737.2 1-14 ?Centronuclear myopathy 4 OMIM

CCT5 1618 NM_012073.4 1-11 Neuropathy, hereditary sensory, with spastic paraplegia OMIM

CD59 1689 NM_203330.2 4-6 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy OMIM

CFL2 1875 NM_021914.7 1-4 Nemaline myopathy 7, autosomal recessive OMIM

CHAT 1912 NM_020549.4 1-15 Myasthenic syndrome, congenital, 6, presynaptic OMIM

CHCHD10 15559 NM_213720.2 1-4 ?Myopathy, isolated mitochondrial, autosomal dominant OMIM

Spinal muscular atrophy, Jokela type OMIM

CHKB 1938 NM_005198.4 1-11 Muscular dystrophy, congenital, megaconial type OMIM

CHRNA1 1955 NM_000079.4 1-9 Multiple pterygium syndrome, lethal type OMIM

Myasthenic syndrome, congenital, 1A, slow-channel OMIM

Myasthenic syndrome, congenital, 1B, fast-channel OMIM

(9)

CHRNB1 1961 NM_000747.3 1-11 ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deﬁciency OMIM

Myasthenic syndrome, congenital, 2A, slow-channel OMIM

CHRND 1965 NM_000751.3 1-12 ?Myasthenic syndrome, congenital, 3A, slow-channel OMIM

?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deﬁciency OMIM

Multiple pterygium syndrome, lethal type OMIM

CHRNE 1966 NM_000080.3 1-12 Myasthenic syndrome, congenital, 4A, slow-channel OMIM

Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deﬁciency OMIM

CHRNG 1967 NM_005199.4 1-12 Escobar syndrome OMIM

Multiple pterygium syndrome, lethal type OMIM

CHST14 24464 NM_130468.3 1 Ehlers-Danlos syndrome,

musculocontractural type 1 OMIM

CHUK 1974 NM_001278.4 1-21 Cocoon syndrome OMIM

CLCN1 2019 NM_000083.3 1-23 Myotonia congenita, dominant OMIM Myotonia congenita, recessive OMIM CLMP 24039 NM_024769.2 1-7 Congenital short bowel syndrome

OMIM

CNBP 13164 NM_003418.5 2-5 Myotonic dystrophy 2 OMIM

CNTN1 2171 NM_001843.4 2-24 ?Myopathy, congenital, Compton-North OMIM

(10)

CNTNAP1 8011 NM_003632.2 1-24 Hypomyelinating neuropathy, congenital, 3 OMIM

Lethal congenital contracture syndrome 7 OMIM

COA7 25716 NM_023077.2 1-3 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM

COASY 29932 NM_025233.7 1-9 Neurodegeneration with brain iron accumulation 6 OMIM

Pontocerebellar hypoplasia, type 12 OMIM

COL12A1 2188 NM_004370.6 2-66 ?Ullrich congenital muscular dystrophy 2 OMIM

Bethlem myopathy 2 OMIM

COL13A1 2190 NM_001130103.2 1-40 Myasthenic syndrome, congenital, 19 OMIM

COL4A1 2202 NM_001845.6 1-52 Angiopathy, hereditary, with

nephropathy, aneurysms, and muscle cramps OMIM

Brain small vessel disease with or without ocular anomalies OMIM Microangiopathy and

leukoencephalopathy, pontine, autosomal dominant OMIM

COL4A2 2203 NM_001846.2 2-48 Brain small vessel disease 2 OMIM

COL6A1 2211 NM_001848.2 1-35 Bethlem myopathy 1 OMIM

Ullrich congenital muscular dystrophy 1 OMIM

COL6A2 2212 NM_001849.4 2-28 ?Myosclerosis, congenital OMIM Bethlem myopathy 1 OMIM

COL6A3 2213 NM_004369.3 2-44 Bethlem myopathy 1 OMIM Dystonia 27 OMIM

(11)

COLQ 2226 NM_005677.3 1-17 Myasthenic syndrome, congenital, 5 OMIM

COQ2 25223 NM_015697.7 1-7 Coenzyme Q10 deﬁciency, primary, 1 OMIM

COX10 2260 NM_001303.4 6 1-7 Mitochondrial complex IV deﬁciency, nuclear type 3 OMIM

COX6A1 2277 NM_004373.3 1-3 Charcot-Marie-Tooth disease, recessive intermediate D OMIM

CPOX 2321 NM_000097.7 1-7 Coproporphyria OMIM

CPT2 2330 NM_000098.2 1-5 CPT II deﬁciency, infantile OMIM

CPT II deﬁciency, lethal neonatal OMIM CPT II deﬁciency, myopathic, stress- induced OMIM

CRLF1 2364 NM_004750.4 1-9 Cold-induced sweating syndrome 1 OMIM

CRYAB 2389 NM_001885.2 2-4 Cardiomyopathy, dilated, 1II OMIM Myopathy, myoﬁbrillar, 2 OMIM Myopathy, myoﬁbrillar, fatal infantile hypertonic, alpha-B crystallin-related OMIM

CTDP1 2498 NM_004715.4 1-13 Congenital cataracts, facial

dysmorphism, and neuropathy OMIM CYP27A1 2605 NM_000784.3 1-9 Cerebrotendinous xanthomatosis

OMIM

DAG1 2666 NM_004393.5 2-3 Muscular dystrophy-

Muscular dystrophy-

dystroglycanopathy (limb-girdle), type C, 9 OMIM

DARS2 25538 NM_018122.4 1-17 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation OMIM

(12)

DCAF8 24891 NM_015726.4 3-14 ?Giant axonal neuropathy 2, autosomal dominant OMIM

DCTN1 2711 NM_004082.4 1-32 Neuronopathy, distal hereditary motor, type VIIB OMIM

Perry syndrome OMIM

DCTN2 2712 NM_006400.4 1-14 Charcot-Marie-Tooth disease PubMed

DEGS1 13709 NM_003676.3 1-3 Leukodystrophy, hypomyelinating, 18 OMIM

DES 2770 NM_001927.3 1-9 Cardiomyopathy, dilated, 1I OMIM Myopathy, myoﬁbrillar, 1 OMIM Scapuloperoneal syndrome, neurogenic, Kaeser type OMIM DHCR24 2859 NM_014762.4 1-9 Desmosterolosis OMIM

DHTKD1 23537 NM_018706.7 1-17 ?Charcot-Marie-Tooth disease, axonal, type 2Q OMIM

DMD 2928 NM_004006.2 1-79 Becker muscular dystrophy OMIM Cardiomyopathy, dilated, 3B OMIM Duchenne muscular dystrophy OMIM DNAJB2 5228 NM_001039550.2 2-10 Spinal muscular atrophy, distal,

autosomal recessive, 5 OMIM

DNAJB5 14887 NM_001135004.2 1-5 Charcot-Marie-Tooth disease PubMed

DNAJB6 14888 NM_058246.4 2-10 Muscular dystrophy, limb-girdle, autosomal dominant 1 OMIM DNAJC3 9439 NM_006260.4 1-12 ?Ataxia, combined cerebellar and

peripheral, with hearing loss and diabetes mellitus OMIM

(13)

DNM2 2974 NM_001005360.2 1-21 Centronuclear myopathy 1 OMIM Charcot-Marie-Tooth disease, axonal type 2M OMIM

Charcot-Marie-Tooth disease, dominant intermediate B OMIM Lethal congenital contracture syndrome 5 OMIM

DNMT1 2976 NM_001130823.1 1-41 Cerebellar ataxia, deafness, and

narcolepsy, autosomal dominant OMIM Neuropathy, hereditary sensory, type IE OMIM

DOK7 26594 NM_173660.4 1-7 Fetal akinesia deformation sequence 3 OMIM

Myasthenic syndrome, congenital, 10 OMIM

DOLK 23406 NM_014908.4 1 Congenital disorder of glycosylation, type Im OMIM

DPAGT1 2995 NM_001382.3 1-9 Congenital disorder of glycosylation, type Ij OMIM

Myasthenic syndrome, congenital, 13, with tubular aggregates OMIM

DPM1 3005 NM_003859.1 1-9 Congenital disorder of glycosylation, type Ie OMIM

DPM2 3006 NM_003863.3 1-4 Congenital disorder of glycosylation, type Iu OMIM

DPM3 3007 NM_153741.2 2 ?Muscular dystrophy-

dystroglycanopathy (congenital with impaired intellectual development), type B, 15 OMIM

Muscular dystrophy-

DRP2 3032 NM_001939.2 3-24 Charcot-Marie-Tooth disease PubMed

DST 1090 NM_001723.5 1-24 ?Neuropathy, hereditary sensory and autonomic, type VI OMIM

(14)

DYNC1H1 2961 NM_001376.4 1-78 Charcot-Marie-Tooth disease, axonal, type 20 OMIM

Mental retardation, autosomal dominant 13 OMIM

Spinal muscular atrophy, lower extremity-predominant 1, AD OMIM DYSF 3097 NM_003494.3 1-55 Miyoshi muscular dystrophy 1 OMIM

Muscular dystrophy, limb-girdle, autosomal recessive 2 OMIM

Myopathy, distal, with anterior tibial onset OMIM

ECEL1 3147 NM_004826.4 2-18 Arthrogryposis, distal, type 5D OMIM

EGR2 3239 NM_000399.3 1-2 Charcot-Marie-Tooth disease, type 1D OMIM

Dejerine-Sottas disease OMIM Hypomyelinating neuropathy, congenital, 1 OMIM

EMD 3331 NM_000117.2 1-6 Emery-Dreifuss muscular dystrophy 1, X-linked OMIM

ENO3 3354 NM_053013.3 2-12 ?Glycogen storage disease XIII OMIM

EPG5 29331 NM_020964.3 1-44 Vici syndrome OMIM

ERBB3 3431 NM_001982.3 1-28 ?Lethal congenital contractural syndrome 2 OMIM

ERCC5 3437 NM_000123.3 1-15 Cerebrooculofacioskeletal syndrome 3 OMIM

Xeroderma pigmentosum, group G OMIM

Xeroderma pigmentosum, group G/Cockayne syndrome OMIM

ERCC6 3438 NM_000124.3 2-21 Cerebrooculofacioskeletal syndrome 1 OMIM

Cockayne syndrome, type B OMIM De Sanctis-Cacchione syndrome OMIM UV-sensitive syndrome 1 OMIM

(15)

ERCC8 3439 NM_000082.3 1-12 Cockayne syndrome, type A OMIM

ETFA 3481 NM_000126.4 1-12 Glutaric acidemia IIA OMIM

ETFB 3482 NM_001985.2 1-6 Glutaric acidemia IIB OMIM

ETFDH 3483 NM_004453.4 1-13 Glutaric acidemia IIC OMIM

EXOSC3 17944 NM_016042.4 1-4 Pontocerebellar hypoplasia, type 1B OMIM

EXOSC8 17035 NM_181503.2 1-11 Pontocerebellar hypoplasia, type 1C OMIM

FAH 3579 NM_000137.2 1-14 Tyrosinemia, type I OMIM

FAM126A 24587 NM_032581.3 2-11 Leukodystrophy, hypomyelinating, 5 OMIM

FAM134B 25964 NM_001034850.2 1-9 Neuropathy, hereditary sensory and autonomic, type IIB OMIM

FAM20C 22140 NM_020223.3 1-10 Raine syndrome OMIM

FBLN5 3602 NM_006329.3 1-11 Neuropathy, hereditary, with or without age-related macular degeneration OMIM

FBN2 3604 NM_001999.3 1-65 Contractural arachnodactyly, congenital OMIM

FBXO38 28844 NM_030793.4 2-22 Neuronopathy, distal hereditary motor, type IID OMIM

FGD4 19125 NM_139241.3 3-17 Charcot-Marie-Tooth disease, type 4H OMIM

FGFR2 3689 NM_000141.4 2-18 Antley-Bixler syndrome without genital anomalies or disordered

steroidogenesis OMIM

(16)

FGFR3 3690 NM_000142.4 2-18 CATSHL syndrome OMIM

FHL1 3702 NM_001449.4 7 3-7 ?Uruguay faciocardiomusculoskeletal syndrome OMIM

Emery-Dreifuss muscular dystrophy 6, X-linked OMIM

Myopathy, X-linked, with postural muscle atrophy OMIM

Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset OMIM

Reducing body myopathy, X-linked 1b, with late childhood or adult onset OMIM

Scapuloperoneal myopathy, X-linked dominant OMIM

FIG4 16873 NM_014845.5 1-23 ?Polymicrogyria, bilateral temporooccipital OMIM

Charcot-Marie-Tooth disease, type 4J OMIM

FKBP10 18169 NM_021939.4 1-10 Bruck syndrome 1 OMIM

FKBP14 18625 NM_017946.4 1-4 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 OMIM FKRP 17997 NM_024301.4 4 Muscular dystrophy-

Muscular dystrophy-

dystroglycanopathy (congenital with or without mental retardation), type B, 5 OMIM

Muscular dystrophy-

(17)

FKTN 3622 NM_001079802.1 3-11 Cardiomyopathy, dilated, 1X OMIM Muscular dystrophy-

Muscular dystrophy-

dystroglycanopathy (congenital

without mental retardation), type B, 4 OMIM

Muscular dystrophy-

FLAD1 24671 NM_025207.5 1-7 Lipid storage myopathy due to ﬂavin adenine dinucleotide synthetase deﬁciency OMIM

FLNA 3754 NM_001456.3 2-47 Congenital short bowel syndrome OMIM

Intestinal pseudoobstruction, neuronal OMIM

FLNB 3755 NM_001457.3 1-46 Larsen syndrome OMIM

FLNC 3756 NM_001458.4 44-48 1-48 Cardiomyopathy, familial hypertrophic, 26 OMIM

Cardiomyopathy, familial restrictive 5 OMIM

Myopathy, distal, 4 OMIM Myopathy, myoﬁbrillar, 5 OMIM

FLVCR1 24682 NM_014053.3 1-10 Ataxia, posterior column, with retinitis pigmentosa OMIM

FLVCR2 20105 NM_017791.3 1-10 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome OMIM

FXN 3951 NM_000144.4 5 1-5 Friedreich ataxia OMIM

Friedreich ataxia with retained reﬂexes OMIM

(18)

FXR1 4023 NM_005087.3 17 1-17 ?Myopathy, congenital proximal, with minicore lesions OMIM

?Myopathy, congenital, with respiratory insuﬃciency and bone fractures OMIM GAA 4065 NM_000152.5 2-20 Glycogen storage disease II OMIM

GALC 4115 NM_000153.3 1-17 Krabbe disease OMIM

GAN 4137 NM_022041.3 1-11 Giant axonal neuropathy-1 OMIM

GARS 4162 NM_002047.2 1-17 Charcot-Marie-Tooth disease, type 2D OMIM

Neuronopathy, distal hereditary motor, type VA OMIM

Spinal muscular atrophy, infantile, James type OMIM

GBA 4177 NM_001005741.32-12 2-12 Gaucher disease, perinatal lethal OMIM Gaucher disease, type I OMIM

Gaucher disease, type II OMIM Gaucher disease, type III OMIM Gaucher disease, type IIIC OMIM GBA2 18986 NM_020944.2 1-17 Spastic paraplegia 46, autosomal

recessive OMIM

GBE1 4180 NM_000158.3 1-16 Glycogen storage disease IV OMIM Polyglucosan body disease, adult form OMIM

GDAP1 15968 NM_018972.3 1-6 Charcot-Marie-Tooth disease, axonal, type 2K OMIM

Charcot-Marie-Tooth disease, axonal, with vocal cord paresis OMIM

Charcot-Marie-Tooth disease, recessive intermediate, A OMIM

Charcot-Marie-Tooth disease, type 4A OMIM

GDNF 4232 NM_000514.3 2-3 {Hirschsprung disease, susceptibility to, 3} OMIM

(19)

GFPT1 4241 NM_002056.3 1-19 Myasthenia, congenital, 12, with tubular aggregates OMIM

GJB1 4283 NM_000166.5 2 Charcot-Marie-Tooth neuropathy, X- linked dominant, 1 OMIM

GJB3 4285 NM_024009.2 2 Deafness, autosomal dominant, with peripheral neuropathy

GJC2 17494 NM_020435.4 2 Leukodystrophy, hypomyelinating, 2 OMIM

GLA 4296 NM_000169.2 1-7 Fabry disease OMIM

Fabry disease, cardiac variant OMIM GLDN 29514 NM_181789.4 1-10 Lethal congenital contracture

syndrome 11 OMIM

GLE1 4315 NM_001003722.1 1-16 Congenital arthrogryposis with anterior horn cell disease OMIM Lethal congenital contracture syndrome 1 OMIM

GMPPA 22923 NM_205847.3 2-13 Alacrima, achalasia, and mental retardation syndrome OMIM GMPPB 22932 NM_013334.3 1-8 Muscular dystrophy-

Muscular dystrophy-

dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM Muscular dystrophy-

GNB4 20731 NM_021629.3 2-10 Charcot-Marie-Tooth disease, dominant intermediate F OMIM GNE 23657 NM_001128227.2 1-12 Nonaka myopathy OMIM

(20)

GOLGA2 4425 NM_004486.4 1-26 Developmental delay and microcephaly PubMed

GPR126 13841 NM_020455.5 1-26 Intellectual disability, microcephaly and spasticity PubMed

GSN 4620 NM_000177.4 1-17 Amyloidosis, Finnish type OMIM

GYG1 4699 NM_004130.3 1-8 ?Glycogen storage disease XV OMIM Polyglucosan body myopathy 2 OMIM GYS1 4706 NM_002103.5 1-16 Glycogen storage disease 0, muscle

OMIM

HADHA 4801 NM_000182.4 1-20 LCHAD deﬁciency OMIM

Mitochondrial trifunctional protein deﬁciency OMIM

HADHB 4803 NM_000183.3 2-16 Trifunctional protein deﬁciency OMIM

HARS 4816 NM_002109.5 1-13 Charcot-Marie-Tooth disease, axonal, type 2W OMIM

HEXA 4878 NM_000520.5 1-14 GM2-gangliosidosis, several forms OMIM

Tay-Sachs disease OMIM HINT1 4912 NM_005340.7 1-3 Neuromyotonia and axonal

neuropathy, autosomal recessive OMIM

HK1 4922 NM_000188.2 1-18 Neurodevelopmental disorder with visual defects and brain anomalies OMIM

Neuropathy, hereditary motor and sensory, Russe type OMIM

HMBS 4982 NM_000190.4 1-14 Porphyria, acute intermittent OMIM Porphyria, acute intermittent,

nonerythroid variant OMIM HNRNPDL 5037 NM_031372.3 1-7 Muscular dystrophy, limb-girdle,

autosomal dominant 3 OMIM

(21)

HSPB1 5246 NM_001540.3 1-3 Charcot-Marie-Tooth disease, axonal, type 2F OMIM

Neuronopathy, distal hereditary motor, type IIB OMIM

HSPB3 5248 NM_006308.2 1 ?Neuronopathy, distal hereditary motor, type IIC OMIM

HSPB8 30171 NM_014365.2 1-3 Charcot-Marie-Tooth disease, axonal, type 2L OMIM

Neuronopathy, distal hereditary motor, type IIA OMIM

HSPG2 5273 NM_005529.6 1-97 Schwartz-Jampel syndrome, type 1 OMIM

IARS2 29685 NM_018060.3 1-23 ?Cataracts, growth hormone deﬁciency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM

IDS 5389 NM_000202.7 2-3 1-9 Mucopolysaccharidosis II OMIM

IGHMBP2 5542 NM_002180.2 1-15 Charcot-Marie-Tooth disease, axonal, type 2S OMIM

Neuronopathy, distal hereditary motor, type VI OMIM

IKBKAP 5959 NM_003640.5 2-37 Dysautonomia, familial OMIM

INF2 23791 NM_022489.3 2-22 Charcot-Marie-Tooth disease, dominant intermediate E OMIM INPP5K 33882 NM_016532.3 1-12 Muscular dystrophy, congenital, with

cataracts and intellectual disability OMIM

IRF6 6121 NM_006147.4 3-9 Popliteal pterygium syndrome 1 OMIM

ISCU 29882 NM_213595.3 1-5 Myopathy with lactic acidosis, hereditary OMIM

(22)

ISPD 37276 NM_001101426.3 1-10 Muscular dystrophy-

Muscular dystrophy-

ITGA7 6143 NM_002206.2 1-25 Muscular dystrophy, congenital, due to ITGA7 deﬁciency OMIM

JPH1 14201 NM_020647.2 1-5 ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K OMIM KARS 6215 NM_001130089.1 2-15 ?Charcot-Marie-Tooth disease,

recessive intermediate, B OMIM KAT6B 17582 NM_012330.4 3-18 Genitopatellar syndrome OMIM

KBTBD13 37227 NM_001101362.2 1 Nemaline myopathy 6, autosomal dominant OMIM

KCNA1 6218 NM_000217.3 2 Episodic ataxia/myokymia syndrome OMIM

KCNA2 6220 NM_004974.3 3 Developmental and epileptic encephalopathy 32 OMIM KCNJ2 6263 NM_000891.2 2 Andersen syndrome OMIM

KCNJ5 6266 NM_000890.5 2-3 Hyperaldosteronism, familial, type III OMIM

KIAA1109 26953 NM_015312.3 1-84 Alkuraya-Kucinskas syndrome OMIM

KIF1A 888 NM_004321.7 2-47 NESCAV syndrome OMIM

Neuropathy, hereditary sensory, type IIC OMIM

Spastic paraplegia 30, autosomal dominant OMIM

(23)

KIF1B 16636 NM_015074.3 2-47 ?Charcot-Marie-Tooth disease, type 2A1 OMIM

KIF5A 6323 NM_004984.3 1-28 Myoclonus, intractable, neonatal OMIM Spastic paraplegia 10, autosomal

dominant OMIM

KLHL40 30372 NM_152393.4 1-6 Nemaline myopathy 8, autosomal recessive OMIM

KLHL41 16905 NM_006063.2 1-6 Nemaline myopathy 9 OMIM

KLHL7 15646 NM_001031710.3 1-11 PERCHING syndrome OMIM

KY 26576 NM_178554.4 1-11 Myopathy, myoﬁbrillar, 7 OMIM

L1CAM 6470 NM_000425.5 1-28 Hydrocephalus with congenital

idiopathic intestinal pseudoobstruction OMIM

LAMA2 6482 NM_000426.3 1-65 Muscular dystrophy, congenital,

merosin deﬁcient or partially deﬁcient OMIM

Muscular dystrophy, limb-girdle, autosomal recessive 23 OMIM LAMP2 6501 NM_002294.2 1-9 Danon disease OMIM

LARGE 6511 NM_004737.5 3-16 Muscular dystrophy-

Muscular dystrophy-

dystroglycanopathy (congenital with mental retardation), type B, 6 OMIM LDB3 15710 NM_001080116.1 1-8 Myopathy, myoﬁbrillar, 4 OMIM

LDHA 6535 NM_005566.4 2-8 Glycogen storage disease XI OMIM

(24)

LGI4 18712 NM_139284.2 1-9 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect OMIM LIMS2 16084 NM_001136037.2 1-11 ?Muscular dystrophy, autosomal

recessive, with cardiomyopathy and triangular tongue OMIM

LITAF 16841 NM_004862.3 2-4 Charcot-Marie-Tooth disease, type 1C OMIM

LMNA 6636 NM_170707.4 1-12 Charcot-Marie-Tooth disease, type 2B1 OMIM

Emery-Dreifuss muscular dystrophy 2, autosomal dominant OMIM

Emery-Dreifuss muscular dystrophy 3, autosomal recessive OMIM

Muscular dystrophy, congenital OMIM Restrictive dermopathy, lethal OMIM LMOD3 6649 NM_198271.4 1-3 Nemaline myopathy 10 OMIM

LMX1B 6654 NM_002316.3 1-8 Nail-patella syndrome OMIM

LPIN1 13345 NM_145693.3 2-20 Myoglobinuria, acute recurrent, autosomal recessive OMIM

LRP4 6696 NM_002334.3 1-38 ?Myasthenic syndrome, congenital, 17 OMIM

LRSAM1 25135 NM_138361.5 2-25 Charcot-Marie-Tooth disease, axonal, type 2P OMIM

LYST 1968 NM_000081.4 3-53 Chediak-Higashi syndrome OMIM

MAGEL2 6814 NM_019066.4 1 Schaaf-Yang syndrome OMIM

MATR3 6912 NM_199189.2 5, 18 5-18 Amyotrophic lateral sclerosis 21 OMIM

MCM3AP 6946 NM_003906.4 1-28 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development OMIM

(25)

MEGF10 29634 NM_032446.3 3-26 Myopathy, areﬂexia, respiratory distress, and dysphagia, early-onset OMIM

Myopathy, areﬂexia, respiratory distress, and dysphagia, early-onset, mild variant OMIM

MFN2 16877 NM_014874.4 3-19 Charcot-Marie-Tooth disease, axonal, type 2A2A OMIM

Charcot-Marie-Tooth disease, axonal, type 2A2B OMIM

Hereditary motor and sensory neuropathy VIA OMIM

MICU1 1530 NM_006077.3 2-12 Myopathy with extrapyramidal signs OMIM

MMACHC 24525 NM_015506.2 1-4 Methylmalonic aciduria and homocystinuria, cblC type OMIM MME 7154 NM_007289.2 2-23 ?Spinocerebellar ataxia 43 OMIM

Charcot-Marie-Tooth disease, axonal, type 2T OMIM

MORC2 23573 NM_014941.2 5-27 Charcot-Marie-Tooth disease, axonal, type 2Z OMIM

MPV17 7224 NM_002437.4 2-8 Charcot-Marie-Tooth disease, axonal, type 2EE OMIM

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) OMIM

MPZ 7225 NM_000530.7 1-6 Charcot-Marie-Tooth disease, dominant intermediate D OMIM Charcot-Marie-Tooth disease, type 1B OMIM

Charcot-Marie-Tooth disease, type 2I OMIM

Charcot-Marie-Tooth disease, type 2J OMIM

Dejerine-Sottas disease OMIM Hypomyelinating neuropathy, congenital, 2 OMIM

(26)

MSTO1 29678 NM_018116.3 1-14 1-14 Myopathy, mitochondrial, and ataxia OMIM

MTM1 7448 NM_000252.2 2-15 Myotubular myopathy, X-linked OMIM

MTMR14 26190 NM_022485.5 1-17 {Centronuclear myopathy, autosomal, modiﬁer of} OMIM

MTMR2 7450 NM_016156.5 1-15 Charcot-Marie-Tooth disease, type 4B1 OMIM

MTTP 7467 NM_000253.3 2-19 Abetalipoproteinemia OMIM

MUSK 7525 NM_005592.3 1-14 Fetal akinesia deformation sequence 1 OMIM

Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deﬁciency OMIM

MYBPC1 7549 NM_002465.3 1-31 Arthrogryposis, distal, type 1B OMIM Lethal congenital contracture

syndrome 4 OMIM

Myopathy, congenital, with tremor OMIM

MYBPC3 7551 NM_000256.3 1-33 Cardiomyopathy, hypertrophic, 4 OMIM

MYF5 7565 NM_005593.3 1-3 Ophthalmoplegia, external, with rib and vertebral anomalies OMIM

MYH14 23212 NM_024729.3 2-41 ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss OMIM Deafness, autosomal dominant 4A OMIM

MYH2 7572 NM_017534.5 3-40 Proximal myopathy and

ophthalmoplegia OMIM

(27)

MYH3 7573 NM_002470.3 3-41 Arthrogryposis, distal, type 2A (Freeman-Sheldon) OMIM Arthrogryposis, distal, type 2B3 (Sheldon-Hall) OMIM

Contractures, pterygia, and

spondylocarpostarsal fusion syndrome 1A OMIM

Contractures, pterygia, and

spondylocarpotarsal fusion syndrome 1B OMIM

MYH7 7577 NM_000257.3 3-40 Laing distal myopathy OMIM

Myopathy, myosin storage, autosomal dominant OMIM

Myopathy, myosin storage, autosomal recessive OMIM

Scapuloperoneal syndrome, myopathic type OMIM

MYH8 7578 NM_002472.3 3-40 Carney complex variant OMIM Trismus-pseudocamptodactyly syndrome OMIM

MYL1 7582 NM_079420.3 1-6 Myopathy, congenital, with fast-twitch (type II) ﬁber atrophy OMIM

MYO18B 18150 NM_032608.5 2-43 Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism OMIM

MYO9A 7608 NM_006901.4 2-42 Myasthenic syndrome, congenital, 24, presynaptic OMIM

MYOT 12399 NM_006790.2 2-10 Myopathy, myoﬁbrillar, 3 OMIM Myopathy, spheroid body OMIM MYPN 23246 NM_032578.3 2-20 Nemaline myopathy 11, autosomal

recessive OMIM

NAGA 7631 NM_000262.2 1-9 Kanzaki disease OMIM

Schindler disease, type I OMIM Schindler disease, type III OMIM

(28)

NAGLU 7632 NM_000263.4 1-6 ?Charcot-Marie-Tooth disease, axonal, type 2V OMIM

Mucopolysaccharidosis type IIIB (Sanﬁlippo B) OMIM

NALCN 19082 NM_052867.2 2-44 Congenital contractures of the limbs and face, hypotonia, and

developmental delay OMIM

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 OMIM

NDRG1 7679 NM_006096.4 2-16 Charcot-Marie-Tooth disease, type 4D OMIM

NEB 7720 NM_001271208.182-105 3-183 Nemaline myopathy 2, autosomal recessive OMIM

NEFH 7737 NM_021076.4 4 1-4 Charcot-Marie-Tooth disease, axonal, type 2CC OMIM

NEFL 7739 NM_006158.4 1-5 Charcot-Marie-Tooth disease, dominant intermediate G OMIM Charcot-Marie-Tooth disease, type 1F OMIM

Charcot-Marie-Tooth disease, type 2E OMIM

NGF 7808 NM_002506.2 3 Neuropathy, hereditary sensory and autonomic, type V OMIM

NTRK1 8031 NM_001012331.1 1-16 Insensitivity to pain, congenital, with anhidrosis OMIM

NUP88 8067 NM_002532.4 1-17 Fetal akinesia deformation sequence 4 OMIM

OPA1 8140 NM_015560.2 1-28 ?Mitochondrial DNA depletion syndrome 14

(encephalocardiomyopathic type) OMIM

Behr syndrome OMIM

Optic atrophy plus syndrome OMIM OPA3 8142 NM_025136.4 1-2 3-methylglutaconic aciduria, type III

OMIM

(29)

ORAI1 25896 NM_032790.3 1-2 Immunodeﬁciency 9 OMIM

Myopathy, tubular aggregate, 2 OMIM PABPN1 8565 NM_004643.3 1-7 Oculopharyngeal muscular dystrophy

OMIM

PAX7 8621 NM_002584.2 1-8 Myopathy, congenital, progressive, with scoliosis OMIM

PDHA1 8806 NM_000284.3 1-11 Pyruvate dehydrogenase E1-alpha deﬁciency OMIM

PDK3 8811 NM_001142386.3 1-12 ?Charcot-Marie-Tooth disease, X-linked dominant, 6 OMIM

PDYN 8820 NM_024411.5 3-4 Spinocerebellar ataxia 23 OMIM

PEX1 8850 NM_000466.2 1-24 Heimler syndrome 1 OMIM

Peroxisome biogenesis disorder 1A (Zellweger) OMIM

Peroxisome biogenesis disorder 1B (NALD/IRD) OMIM

PEX10 8851 NM_153818.1 1-6 Peroxisome biogenesis disorder 6A (Zellweger) OMIM

Peroxisome biogenesis disorder 6B OMIM

PEX11B 8853 NM_003846.2 1-4 ?Peroxisome biogenesis disorder 14B OMIM

(30)

PEX2 9717 NM_000318.2 4 Peroxisome biogenesis disorder 5A (Zellweger) OMIM

PEX3 8858 NM_003630.3 1-12 ?Peroxisome biogenesis disorder 10B OMIM

Rhizomelic chondrodysplasia punctata, type 5 OMIM

PEX6 8859 NM_000287.3 1-17 Heimler syndrome 2 OMIM

PEX7 8860 NM_000288.4 1-10 Peroxisome biogenesis disorder 9B OMIM

Rhizomelic chondrodysplasia punctata, type 1 OMIM

PFKM 8877 NM_000289.5 2-23 Glycogen storage disease VII OMIM

PGAM2 8889 NM_000290.3 1-3 Glycogen storage disease X OMIM

(31)

PGK1 8896 NM_000291.4 1-11 Phosphoglycerate kinase 1 deﬁciency OMIM

PGM1 8905 NM_002633.2 1-11 Congenital disorder of glycosylation, type It OMIM

PHKA1 8925 NM_002637.3 1-32 Muscle glycogenosis OMIM

PHKB 8927 NM_000293.3 1-31 Phosphorylase kinase deﬁciency of liver and muscle, autosomal recessive OMIM PHOX2B 9143 NM_003924.3 1-3 Central hypoventilation syndrome,

congenital, with or without Hirschsprung disease OMIM

PHYH 8940 NM_006214.3 1-9 Refsum disease OMIM

PIEZO2 26270 NM_022068.3 4 1-52 ?Marden-Walker syndrome OMIM Arthrogryposis, distal, type 3 OMIM Arthrogryposis, distal, type 5 OMIM Arthrogryposis, distal, with impaired proprioception and touch OMIM PIP5K1C 8996 NM_012398.2 1-18 Lethal congenital contractural

syndrome 3 OMIM

PLA2G6 9039 NM_003560.3 2-17 Infantile neuroaxonal dystrophy 1 OMIM

Neurodegeneration with brain iron accumulation 2B OMIM

Parkinson disease 14, autosomal recessive OMIM

PLEC 9069 NM_000445.5 2-33 Epidermolysis bullosa simplex with muscular dystrophy OMIM

Epidermolysis bullosa simplex with pyloric atresia OMIM

Muscular dystrophy, limb-girdle, autosomal recessive 17 OMIM

PLEKHG5 29105 NM_020631.4 2-21 Charcot-Marie-Tooth disease, recessive intermediate C OMIM

Spinal muscular atrophy, distal,

(32)

PLOD1 9081 NM_000302.4 1-19 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 OMIM PLOD2 9082 NM_182943.3 1-20 Bruck syndrome 2 OMIM

PLP1 9086 NM_000533.5 1-7 Pelizaeus-Merzbacher disease OMIM Spastic paraplegia 2, X-linked OMIM PMM2 9115 NM_000303.2 1-8 Congenital disorder of glycosylation,

type Ia OMIM

PMP2 9117 NM_002677.4 1-4 Charcot-Marie-Tooth disease, demyelinating, type 1G OMIM PMP22 9118 NM_000304.4 2-5 ?Neuropathy, inﬂammatory

demyelinating OMIM

Charcot-Marie-Tooth disease, type 1A OMIM

Charcot-Marie-Tooth disease, type 1E OMIM

Dejerine-Sottas disease OMIM

Neuropathy, recurrent, with pressure palsies OMIM

Roussy-Levy syndrome OMIM

PNKP 9154 NM_007254.3 2-17 ?Charcot-Marie-Tooth disease, type 2B2 OMIM

Ataxia-oculomotor apraxia 4 OMIM Microcephaly, seizures, and

developmental delay OMIM

PNPLA2 30802 NM_020376.3 2-10 Neutral lipid storage disease with myopathy OMIM

PNPLA6 16268 NM_006702.4 3-35 ?Laurence-Moon syndrome OMIM Boucher-Neuhauser syndrome OMIM Oliver-McFarlane syndrome OMIM Spastic paraplegia 39, autosomal recessive OMIM

POGLUT1 22954 NM_152305.2 1-11 ?Muscular dystrophy, limb-girdle, autosomal recessive 21 OMIM

(33)

POLG 9179 NM_002693.2 2-23 Mitochondrial DNA depletion syndrome 4A (Alpers type) OMIM Mitochondrial DNA depletion syndrome 4B (MNGIE type) OMIM Mitochondrial recessive ataxia

syndrome (includes SANDO and SCAE) OMIM

Progressive external ophthalmoplegia, autosomal dominant 1 OMIM

Progressive external ophthalmoplegia, autosomal recessive 1 OMIM

POLG2 9180 NM_007215.4 1-8 Mitochondrial DNA depletion syndrome 16 (hepatic type) OMIM Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 OMIM

POLR3A 30074 NM_007055.3 1-31 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM

Wiedemann-Rautenstrauch syndrome OMIM

POMGNT1 19139 NM_017739.3 2-22 Muscular dystrophy-

Muscular dystrophy-

POMGNT2 25902 NM_032806.6 2 Muscular dystrophy-

dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 OMIM

Muscular dystrophy-

dystroglycanopathy (limb-girdle) type

(34)

POMK 26267 NM_032237.5 4-5 ?Muscular dystrophy-

Muscular dystrophy-

POMT1 9202 NM_007171.3 2-20 Muscular dystrophy-

Muscular dystrophy-

POMT2 19743 NM_013382.5 1-21 Muscular dystrophy-

Muscular dystrophy-

POR 9208 NM_000941.2 2-16 Antley-Bixler syndrome with genital anomalies and disordered

steroidogenesis OMIM

PPA2 28883 NM_176869.2 1-12 Sudden cardiac failure, infantile OMIM

PPOX 9280 NM_000309.5 2-13 Porphyria variegata OMIM

(35)

PPP3CA 9314 NM_000944.4 1-14 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development OMIM Epileptic encephalopathy, infantile or early childhood, 1 OMIM

PRDM12 13997 NM_021619.3 1-5 Neuropathy, hereditary sensory and autonomic, type VIII OMIM

PREPL 30228 NM_006036.4 1-14 Myasthenic syndrome, congenital, 22 OMIM

PRG4 9364 NM_005807.4 2-13 Camptodactyly-arthropathy-coxa vara- pericarditis syndrome OMIM

PRKAG2 9386 NM_016203.4 1-16 Glycogen storage disease of heart, lethal congenital OMIM

PRKCG 9402 NM_002739.3 1-18 Spinocerebellar ataxia 14 OMIM

PRNP 9449 NM_000311.3 2 Cerebral amyloid angiopathy, PRNP- related OMIM

Creutzfeldt-Jakob disease OMIM Gerstmann-Straussler disease OMIM Huntington disease-like 1 OMIM Insomnia, fatal familial OMIM

Prion disease with protracted course OMIM

PRPS1 9462 NM_002764.4 7 1-7 Arts syndrome OMIM

Charcot-Marie-Tooth disease, X-linked recessive, 5 OMIM

Gout, PRPS-related OMIM Phosphoribosylpyrophosphate synthetase superactivity OMIM

PRX 13797 NM_181882.2 4-7 Charcot-Marie-Tooth disease, type 4F OMIM

Dejerine-Sottas disease OMIM PTEN 9588 NM_000314.6 9 1-9 Cowden syndrome 1 OMIM

Lhermitte-Duclos syndrome OMIM Macrocephaly/autism syndrome OMIM

(36)

PTPLA 9639 NM_014241.3 1-7 Congenital myopathy PubMed

PTPN11 9644 NM_002834.4 1-15 Noonan syndrome 1 OMIM

PTRF 9688 NM_012232.5 1-2 Lipodystrophy, congenital generalized, type 4 OMIM

PTRH2 24265 NM_016077.4 2 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease OMIM

PYGM 9726 NM_005609.3 1-20 McArdle disease OMIM

PYROXD1 26162 NM_024854.5 12 1-12 Myopathy, myoﬁbrillar, 8 OMIM

RAB7A 9788 NM_004637.5 2-6 Charcot-Marie-Tooth disease OMIM

RAPSN 9863 NM_005055.4 1-8 Fetal akinesia deformation sequence 2 OMIM

Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deﬁciency OMIM

RARS2 21406 NM_020320.3 1-20 Pontocerebellar hypoplasia, type 6 OMIM

RBCK1 15864 NM_031229.2 1-12 Polyglucosan body myopathy 1 with or without immunodeﬁciency OMIM REEP1 25786 NM_022912.2 1-7 ?Neuronopathy, distal hereditary

motor, type VB OMIM

Spastic paraplegia 31, autosomal dominant OMIM

RET 9967 NM_020975.5 1-20 {Hirschsprung disease, susceptibility to, 1} OMIM

RIPK4 496 NM_020639.2 1-8 Popliteal pterygium syndrome, Bartsocas-Papas type OMIM

(37)

RRM2B 17296 NM_015713.4 1-9 Mitochondrial DNA depletion

syndrome 8A (encephalomyopathic type with renal tubulopathy) OMIM Mitochondrial DNA depletion

syndrome 8B (MNGIE type) OMIM Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 OMIM

RYR1 10483 NM_000540.2 1-106 {Malignant hyperthermia susceptibility 1} OMIM

Central core disease OMIM

King-Denborough syndrome OMIM Minicore myopathy with external ophthalmoplegia OMIM

Neuromuscular disease, congenital, with uniform type 1 ﬁber OMIM RYR3 10485 NM_001036.4 1-104 Nemaline myopathy PubMed

SACS 10519 NM_014363.6 2-10 Spastic ataxia, Charlevoix-Saguenay type OMIM

SAMD9 1348 NM_017654.3 3 MIRAGE syndrome OMIM Tumoral calcinosis, familial, normophosphatemic OMIM

SBF1 10542 NM_002972.4 1-41 Charcot-Marie-Tooth disease, type 4B3 OMIM

SBF2 2135 NM_030962.3 1-40 Charcot-Marie-Tooth disease, type 4B2 OMIM

SCARB2 1665 NM_005506.3 1-12 Epilepsy, progressive myoclonic 4, with or without renal failure OMIM

SCARF2 19869 NM_153334.6 1-12 Van den Ende-Gupta syndrome OMIM

SCN10A 10582 NM_006514.3 1-27 Episodic pain syndrome, familial, 2 OMIM

(38)

SCN11A 10583 NM_014139.2 1-26 Episodic pain syndrome, familial, 3 OMIM

Neuropathy, hereditary sensory and autonomic, type VII OMIM

SCN1A 10585 NM_001165963.1 1-26 Dravet syndrome OMIM

Epilepsy, generalized, with febrile seizures plus, type 2 OMIM

Febrile seizures, familial, 3A OMIM Migraine, familial hemiplegic, 3 OMIM SCN4A 10591 NM_000334.4 1-24 Hyperkalemic periodic paralysis, type 2

OMIM

Hypokalemic periodic paralysis, type 2 OMIM

Myasthenic syndrome, congenital, 16 OMIM

Myotonia congenita, atypical, acetazolamide-responsive OMIM Paramyotonia congenita OMIM SCN9A 10597 NM_002977.3 2-27 Erythermalgia, primary OMIM

Febrile seizures, familial, 3B OMIM Generalized epilepsy with febrile seizures plus, type 7 OMIM

Insensitivity to pain, congenital OMIM Neuropathy, hereditary sensory and autonomic, type IID OMIM

Paroxysmal extreme pain disorder OMIM

Small ﬁber neuropathy OMIM

SCO2 10604 NM_005138.2 2 Mitochondrial complex IV deﬁciency, nuclear type 2 OMIM

SCYL1 14372 NM_020680.4 1-18 Spinocerebellar ataxia, autosomal recessive 21 OMIM

SEPN1 15999 NM_020451.2 1-13 Muscular dystrophy, rigid spine, 1 OMIM

Myopathy, congenital, with ﬁber-type disproportion OMIM

SEPT9 7323 NM_006640.4 1-11 Amyotrophy, hereditary neuralgic OMIM

(39)

SETX 445 NM_015046.7 3-26 Amyotrophic lateral sclerosis 4, juvenile OMIM

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 OMIM

SGCA 10805 NM_000023.2 1-9 Muscular dystrophy, limb-girdle, autosomal recessive 3 OMIM SGCB 10806 NM_000232.4 1-6 Muscular dystrophy, limb-girdle,

autosomal recessive 4 OMIM SGCD 10807 NM_000337.5 2-9 Muscular dystrophy, limb-girdle,

autosomal recessive 6 OMIM SGCG 10809 NM_000231.2 2-8 Muscular dystrophy, limb-girdle,

autosomal recessive 5 OMIM

SGPL1 10817 NM_003901.4 2-15 Nephrotic syndrome, type 14 OMIM

SH3TC2 29427 NM_024577.3 1-17 Charcot-Marie-Tooth disease, type 4C OMIM

Mononeuropathy of the median nerve, mild OMIM

SIGMAR1 8157 NM_005866.4 1-4 ?Amyotrophic lateral sclerosis 16, juvenile OMIM

?Spinal muscular atrophy, distal, autosomal recessive, 2 OMIM

SIL1 24624 NM_022464.4 2-10 Marinesco-Sjogren syndrome OMIM

SKI 10896 NM_003036.3 1-7 Shprintzen-Goldberg syndrome OMIM

SLC12A6 10914 NM_133647.1 1-25 Agenesis of the corpus callosum with peripheral neuropathy OMIM

SLC18A3 10936 NM_003055.2 1 Myasthenic syndrome, congenital, 21, presynaptic OMIM

SLC1A3 10941 NM_004172.4 2-10 Episodic ataxia, type 6 OMIM

(40)

SLC22A5 10969 NM_003060.3 1-10 Carnitine deﬁciency, systemic primary OMIM

SLC25A1 10979 NM_005984.4 1-9 Myasthenic syndrome, congenital, 23, presynaptic OMIM

SLC25A19 14409 NM_021734.4 3-8 Thiamine metabolism dysfunction syndrome 4 (progressive

polyneuropathy type) OMIM

SLC25A20 1421 NM_000387.5 1-9 Carnitine-acylcarnitine translocase deﬁciency OMIM

SLC25A4 10990 NM_001151.3 1-4 Mitochondrial DNA depletion

syndrome 12A (cardiomyopathic type) AD OMIM

Mitochondrial DNA depletion

syndrome 12B (cardiomyopathic type) AR OMIM

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 OMIM SLC25A46 25198 NM_138773.2 1-8 Neuropathy, hereditary motor and

sensory, type VIB OMIM

SLC2A1 11005 NM_006516.3 1-10 {Epilepsy, idiopathic generalized, susceptibility to, 12} OMIM Dystonia 9 OMIM

GLUT1 deﬁciency syndrome 1, infantile onset, severe OMIM

GLUT1 deﬁciency syndrome 2, childhood onset OMIM

Stomatin-deﬁcient cryohydrocytosis with neurologic defects OMIM

SLC52A2 30224 NM_024531.5 2-5 Brown-Vialetto-Van Laere syndrome 2 OMIM

SLC52A3 16187 NM_033409.4 2-5 ?Fazio-Londe disease OMIM

Brown-Vialetto-Van Laere syndrome 1 OMIM

(41)

SLC5A7 14025 NM_021815.5 2-9 Myasthenic syndrome, congenital, 20, presynaptic OMIM

Neuronopathy, distal hereditary motor, type VIIA OMIM

SLC6A9 11056 NM_201649.3 1-14 Glycine encephalopathy with normal serum glycine OMIM

SMAD3 6769 NM_005902.3 1-9 Loeys-Dietz syndrome 3 OMIM

SMAD4 6770 NM_005359.5 2-12 Myhre syndrome OMIM

SMPD4 32949 NM_017951.4 1-20 1-20 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies OMIM SOD1 11179 NM_000454.4 1-5 Amyotrophic lateral sclerosis 1 OMIM

Spastic tetraplegia and axial hypotonia, progressive OMIM

SORD 11184 NM_003104.6 1-9 1-9 Sorbitol dehydrogenase deﬁciency with peripheral neuropathy OMIM

SOX10 11190 NM_006941.3 2-4 PCWH syndrome OMIM

Waardenburg syndrome, type 2E, with or without neurologic involvement OMIM

Waardenburg syndrome, type 4C OMIM SPAST 11233 NM_014946.3 1-17 Spastic paraplegia 4, autosomal

dominant OMIM

SPEG 16901 NM_005876.5 1-41 Centronuclear myopathy 5 OMIM

SPG11 11226 NM_025137.4 1-40 Amyotrophic lateral sclerosis 5, juvenile OMIM

Charcot-Marie-Tooth disease, axonal, type 2X OMIM

SPG20 18514 NM_001142294.1 2-9 Troyer syndrome OMIM

(42)

SPG7 11237 NM_003119.4 1-17 Spastic paraplegia 7, autosomal recessive OMIM

SPTBN4 14896 NM_020971.2 2-36 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness OMIM

SPTLC1 11277 NM_006415.4 3 1-15 Neuropathy, hereditary sensory and autonomic, type IA OMIM

SPTLC2 11278 NM_004863.3 1-12 Neuropathy, hereditary sensory and autonomic, type IC OMIM

SQSTM1 11280 NM_003900.4 1-8 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 OMIM Myopathy, distal, with rimmed vacuoles OMIM

Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood- onset OMIM

STAC3 28423 NM_145064.2 2-12 Myopathy, congenital, Baily-Bloch OMIM

STIM1 11386 NM_003156.3 1-12 Immunodeﬁciency 10 OMIM

Myopathy, tubular aggregate, 1 OMIM Stormorken syndrome OMIM

SUCLA2 11448 NM_003850.2 1-11 Mitochondrial DNA depletion

syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM

SUCLG1 11449 NM_003849.3 1-9 Mitochondrial DNA depletion

syndrome 9 (encephalomyopathic type with methylmalonic aciduria) OMIM SURF1 11474 NM_003172.4 1-9 Charcot-Marie-Tooth disease, type 4K

OMIM

Mitochondrial complex IV deﬁciency, nuclear type 1 OMIM

(43)

SYNE1 17089 NM_033071.3 2-146 Arthrogryposis multiplex congenita 3, myogenic type OMIM

Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM

Spinocerebellar ataxia, autosomal recessive 8 OMIM

SYNE2 17084 NM_182914.2 2-116 Emery-Dreifuss muscular dystrophy 5, autosomal dominant OMIM

SYT2 11510 NM_177402.4 2 2-9 Myasthenic syndrome, congenital, 7, presynaptic OMIM

TANGO2 25439 NM_152906.5 2-9 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis,

cardiac arrhythmias, and neurodegeneration OMIM

TBCE 11582 NM_003193.4 2-17 Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM TCAP 11610 NM_003673.4 1-2 Muscular dystrophy, limb-girdle,

autosomal recessive 7 OMIM

TDP1 18884 NM_018319.4 3-17 ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 OMIM

TFG 11758 NM_006070.6 2-8 ?Spastic paraplegia 57, autosomal recessive OMIM

Hereditary motor and sensory neuropathy, Okinawa type OMIM TGFB2 11768 NM_003238.6 1-7 Loeys-Dietz syndrome 4 OMIM

TGFB3 11769 NM_003239.3 1-7 Loeys-Dietz syndrome 5 OMIM

TGFBR1 11772 NM_004612.3 1-9 Loeys-Dietz syndrome 1 OMIM

TGFBR2 11773 NM_003242.5 1-7 Loeys-Dietz syndrome 2 OMIM

TIA1 11802 NM_022173.2 1-13 Welander distal myopathy OMIM

(44)

TK2 11831 NM_004614.4 1-10 ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 OMIM Mitochondrial DNA depletion

syndrome 2 (myopathic type) OMIM TMEM126B 30883 NM_018480.4 1-5 Mitochondrial complex I deﬁciency,

nuclear type 29 OMIM

TMEM43 28472 NM_024334.2 1-12 Emery-Dreifuss muscular dystrophy 7, AD OMIM

TMEM5 13530 NM_014254.2 1-6 Muscular dystrophy-

TMEM70 26050 NM_017866.6 1-3 Mitochondrial complex V (ATP synthase) deﬁciency, nuclear type 2 OMIM

TMEM8C 33778 NM_001080483.2 1-5 Carey-Fineman-Ziter syndrome OMIM

TNNI2 11946 NM_003282.4 2-7 Arthrogryposis, distal, type 2B1 OMIM

TNNT1 11948 NM_003283.5 2-14 Nemaline myopathy 5, Amish type OMIM

TNNT3 11950 NM_006757.3 2-16 Arthrogryposis, distal, type 2B2 OMIM

TNPO3 17103 NM_012470.3 1-22 Muscular dystrophy, limb-girdle, autosomal dominant 2 OMIM

TOR1A 3098 NM_000113.3 1-5 Arthrogryposis multiplex congenita 5 OMIM

Dystonia-1, torsion OMIM

TOR1AIP1 29456 NM_001267578.1 1-10 ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures OMIM

(45)

TPM2 12011 NM_003289.3 1-9 Arthrogryposis, distal, type 1A OMIM Arthrogryposis, distal, type 2B4 OMIM CAP myopathy 2 OMIM

Nemaline myopathy 4, autosomal dominant OMIM

TPM3 12012 NM_152263.3 1-10 CAP myopathy 1 OMIM

Myopathy, congenital, with ﬁber-type disproportion OMIM

Nemaline myopathy 1, autosomal dominant or recessive OMIM TRAPPC11 25751 NM_021942.5 2-30 Muscular dystrophy, limb-girdle,

autosomal recessive 18 OMIM TRDN 12261 NM_006073.4 1-41 Ventricular tachycardia,

catecholaminergic polymorphic, 5, with or without muscle weakness OMIM TRIM2 15974 NM_001130067.1 2-12 Charcot-Marie-Tooth disease, type 2R

OMIM

TRIM32 16380 NM_012210.3 2 Muscular dystrophy, limb-girdle, autosomal recessive 8 OMIM TRIP4 12310 NM_016213.4 1-13 ?Muscular dystrophy, congenital,

Davignon-Chauveau type OMIM Spinal muscular atrophy with congenital bone fractures 1 OMIM TRPA1 497 NM_007332.2 1-27 ?Episodic pain syndrome, familial, 1

OMIM

TRPV4 18083 NM_021625.5 2-16 Brachyolmia type 3 OMIM

Digital arthropathy-brachydactyly, familial OMIM

Hereditary motor and sensory neuropathy, type IIc OMIM Metatropic dysplasia OMIM

Neuronopathy, distal hereditary motor, type VIII OMIM

Scapuloperoneal spinal muscular atrophy OMIM

TSEN2 28422 NM_025265.3 2-12 Pontocerebellar hypoplasia type 2B

(46)

TSEN54 27561 NM_207346.2 1-11 ?Pontocerebellar hypoplasia type 5 OMIM

Pontocerebellar hypoplasia type 2A OMIM

Pontocerebellar hypoplasia type 4 OMIM

TSFM 12367 NM_001172696.2 1-7 Combined oxidative phosphorylation deﬁciency 3 OMIM

TTN 12403 NM_133378.4 154-155 2-312 Muscular dystrophy, limb-girdle, autosomal recessive 10 OMIM Myopathy, myoﬁbrillar, 9, with early respiratory failure OMIM

Salih myopathy OMIM

Tibial muscular dystrophy, tardive OMIM

TTPA 12404 NM_000370.3 1-5 Ataxia with isolated vitamin E deﬁciency OMIM

TTR 12405 NM_000371.3 1-4 Amyloidosis, hereditary, transthyretin- related OMIM

Carpal tunnel syndrome, familial OMIM TUBB3 20772 NM_001197181.14 3-4 Cortical dysplasia, complex, with other

brain malformations 1 OMIM Fibrosis of extraocular muscles, congenital, 3A OMIM

TYMP 3148 NM_001953.4 2-10 Mitochondrial DNA depletion syndrome 1 (MNGIE type) OMIM UBA1 12469 NM_003334.4 2-26 Spinal muscular atrophy, X-linked 2,

infantile OMIM

VAMP1 12642 NM_014231.5 1-5 Myasthenic syndrome, congenital, 25 OMIM

Spastic ataxia 1, autosomal dominant OMIM

VAPB 12649 NM_004738.4 1-6 Spinal muscular atrophy, late-onset, Finkel type OMIM

(47)

VCP 12666 NM_007126.4 1-17 Charcot-Marie-Tooth disease, type 2Y OMIM

Inclusion body myopathy with early- onset Paget disease and

frontotemporal dementia 1 OMIM VIPAS39 20347 NM_022067.4 3-21 Arthrogryposis, renal dysfunction, and

cholestasis 2 OMIM

VMA21 22082 NM_001017980.3 1-3 Myopathy, X-linked, with excessive autophagy OMIM

VPS13A 1908 NM_033305.3 1-72 Choreoacanthocytosis OMIM

VPS33B 12712 NM_018668.4 1-23 Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM

VRK1 12718 NM_003384.2 2-13 Pontocerebellar hypoplasia type 1A OMIM

WARS 12729 NM_004184.3 2-11 Neuronopathy, distal hereditary motor, type IX OMIM

WNK1 14540 NM_018979.3 1-28 Neuropathy, hereditary sensory and autonomic, type II OMIM

XK 12811 NM_021083.3 1-3 McLeod syndrome with or without chronic granulomatous disease OMIM XPA 12814 NM_000380.3 1-6 Xeroderma pigmentosum, group A

OMIM

XRCC1 12828 NM_006297.2 1-17 ?Spinocerebellar ataxia, autosomal recessive 26 OMIM

YARS 12840 NM_003680.3 1-13 Charcot-Marie-Tooth disease, dominant intermediate C OMIM ZAK 17797 NM_016653.2 2-20 Centronuclear myopathy 6 with ﬁber-

type disproportion OMIM ZBTB42 32550 NM_001137601.3 1 ?Lethal congenital contracture

syndrome 6 OMIM

ZC4H2 24931 NM_018684.4 1-5 Wieacker-Wolﬀ syndrome OMIM Wieacker-Wolﬀ syndrome, female-

(48)

ZFYVE26 20761 NM_015346.3 2-42 Spastic paraplegia 15, autosomal recessive OMIM

ZMPSTE24 12877 NM_005857.4 1-10 Mandibuloacral dysplasia with type B lipodystrophy OMIM

Restrictive dermopathy, lethal OMIM