Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACTA1 gene ACTA1 Expert Review Amber;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal CMD with rigid spine;Nemaline myopathy 3, autosomal dominant or recessive 161800;Myopathy, congenital, with fiber-type disproportion 1 255310 24642510;25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele);25913210;26436962;20179953 False 2 0;50;50 30.133 False ENSG00000143632 ENSG00000143632 HGNC:129 ALS2 gene ALS2 Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Literature;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100;Spastic paralysis, infantile onset ascending, OMIM:607225 11586297; 20018642 False 2 67;33;0 30.133 False ENSG00000003393 ENSG00000003393 HGNC:443 ANXA11 gene ANXA11 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy and brain white matter abnormalities, OMIM:619733;inclusion body myopathy and brain white matter abnormalities, MONDO:0850514 34048612;36134701;36651622;40730020 False 2 100;0;0 30.133 False ENSG00000122359 ENSG00000122359 HGNC:535 ATP7A gene ATP7A Expert Review Amber;Expert;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease, OMIM:309400;Occipital horn syndrome, OMIM:304150;Spinal muscular atrophy, distal, X-linked 3, OMIM:300489 False 2 0;100;0 30.133 False ENSG00000165240 ENSG00000165240 HGNC:869 CASQ1 gene CASQ1 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 26136523;28895244;29039140;30258016;34908252;36514469 False 2 50;50;0 30.133 False ENSG00000143318 ENSG00000143318 HGNC:1512 CCDC78 gene CCDC78 Expert Review Amber;NHS GMS;London South GLH;Expert;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, centronuclear, 4, OMIM:614807 22818856;25635128 False 2 29;43;29 30.133 False ENSG00000162004 ENSG00000162004 HGNC:14153 CIAO1 gene CIAO1 Literature;Expert Review Amber Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960 38950322 False 2 100;0;0 30.133 False ENSG00000144021 ENSG00000144021 HGNC:14280 CNTN1 gene CNTN1 NHS GMS;London South GLH;Expert Review Amber;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Compton-North, OMIM:612540 19026398;32779773 False 2 20;60;20 30.133 False ENSG00000018236 ENSG00000018236 HGNC:2171 COL4A1 gene COL4A1 Expert Review Amber;NHS GMS;London South GLH;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773;autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726 32842921;28056338;22037604;21625620;18160688;20818663 False 2 40;40;20 30.133 False ENSG00000187498 ENSG00000187498 HGNC:2202 DHX16 gene DHX16 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 31256877 False 2 0;100;0 30.133 False ENSG00000204560 ENSG00000204560 HGNC:2739 DPM1 gene DPM1 NHS GMS;London South GLH;Expert Review Amber;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799 10642597;10642602;15669674;16641202;23856421;27481510;28139241;30653653 False 2 33;67;0 30.133 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM3 gene DPM3 Expert Review Amber;NHS GMS;Yorkshire and North East GLH;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937;DPM3-congenital disorder of glycosylation, MONDO:0013049;?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992;muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556 19576565;28803818;31266720 False 2 75;25;0 30.133 True ENSG00000179085 ENSG00000179085 HGNC:3007 DST gene DST Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal arthrogryposis, MONDO:0859248;cardiomyopathy, MONDO:0004994;congenital myopathy, MONDO:0019952 40497796;35942699 False 2 100;0;0 30.133 False ENSG00000151914 ENSG00000151914 HGNC:1090 DYSF gene DYSF Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1, OMIM:254130;Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601;Myopathy, distal, with anterior tibial onset, OMIM:606768 25821721 False 2 0;100;0 30.133 False ENSG00000135636 ENSG00000135636 HGNC:3097 EXOSC8 gene EXOSC8 Expert Review Amber;Literature;UKGTN Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, OMIM:616081;neuronopathy, distal hereditary motor, MONDO:0000075 24989451 False 2 33;67;0 30.133 False ENSG00000120699 ENSG00000120699 HGNC:17035 FLNC gene FLNC NHS GMS;Expert Review;Expert Review Amber;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, 4, OMIM:614065;Myopathy, myofibrillar, 5, OMIM:609524 29858533 False 2 0;0;100 30.133 False ENSG00000128591 ENSG00000128591 HGNC:3756 GUK1 gene GUK1 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, OMIM:621071 39230499 False 2 100;0;0 30.133 False ENSG00000143774 ENSG00000143774 HGNC:4693 HNRNPA1 gene HNRNPA1 Expert Review Amber;Other Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, 3 , OMIM:610099;distal myopathy, MONDO:0018949 34291734;34722876;39072769 False 2 100;0;0 30.133 False ENSG00000135486 ENSG00000135486 HGNC:5031 HNRNPA1 gene HNRNPA1 Expert Review Amber;Other Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, 3 , OMIM:610099;distal myopathy, MONDO:0018949 34291734;34722876;35550112;39072769 False 2 100;0;0 30.133 False ENSG00000135486 ENSG00000135486 HGNC:5031 HSPB1 gene HSPB1 Expert Review Amber;Expert Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, distal hereditary motor, type IIB, OMIM:608634;Charcot-Marie-Tooth disease, axonal, type 2F, OMIM:606595 15122254 False 2 0;0;100 30.133 False ENSG00000106211 ENSG00000106211 HGNC:5246 HSPB8 gene HSPB8 Expert Review Amber;Expert Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, distal hereditary motor, type IIA, OMIM:158590 15122253;26718575 False 2 0;0;100 30.133 False ENSG00000152137 ENSG00000152137 HGNC:30171 LAMP2 gene LAMP2 NHS GMS;London South GLH;Expert Review Amber;Expert Review Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, OMIM:300257 12084876;21415759 False 2 33;67;0 30.133 True ENSG00000005893 ENSG00000005893 HGNC:6501 LRIF1 gene LRIF1 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy 32467133 False 2 0;100;0 30.133 False ENSG00000121931 ENSG00000121931 HGNC:30299 LRIF1 gene LRIF1 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy 32467133 False 2 0;100;0 30.133 False ENSG00000121931 ENSG00000121931 HGNC:30299 MTMR14 gene MTMR14 NHS GMS;London South GLH;Expert Review Amber;Expert Review Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150 19465920 False 2 67;33;0 30.133 True ENSG00000163719 ENSG00000163719 HGNC:26190 MT-TA gene MT-TA Expert Review Amber;Literature Other rare neuromuscular disorders Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 11715067;14569122;17825557 False 2 0;100;0 30.133 False Other ENSG00000210127 ENSG00000210127 HGNC:7475 MT-TG gene MT-TG Expert Review Amber;Literature Other rare neuromuscular disorders Neurology MITOCHONDRIAL mitochondrial encephalomyopathy, MONDO:0004675 11971101;16120360 False 2 50;50;0 30.133 False Other ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TP gene MT-TP Expert Review Amber;Literature Other rare neuromuscular disorders Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 7689388;32305257 False 2 0;100;0 30.133 False Other ENSG00000210196 ENSG00000210196 HGNC:7494 MYBPC3 gene MYBPC3 NHS GMS;London South GLH;Expert Review Amber;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1MM, OMIM:615396;Cardiomyopathy, hypertrophic, 4, OMIM:115197 19858127 False 2 67;33;0 30.133 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYF5 gene MYF5 Expert Review Amber;Literature;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155 29887215 False 2 0;67;33 30.133 False Other ENSG00000111049 ENSG00000111049 HGNC:7565 MYH1 gene MYH1 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal rhabdomyolysis, MONDO:0005290 33755318 False 2 0;100;0 30.133 False ENSG00000109061 ENSG00000109061 HGNC:7567 NEFL gene NEFL Expert Review Amber;UCL Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nemaline Myopathy 25264603 False 2 0;0;0 30.133 True ENSG00000104725 ENSG00000277586 HGNC:7739 PABPN1 gene PABPN1 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculopharyngeal muscular dystrophy, OMIM:164300;oculopharyngeal muscular dystrophy, MONDO:0008116 16648376;21742497;34225694;36847015 False 2 100;0;0 30.133 False ENSG00000100836 ENSG00000100836 HGNC:8565 POGLUT1 gene POGLUT1 Expert Review Amber;NHS GMS;Yorkshire and North East GLH;Expert list Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 21, OMIM:617232;autosomal recessive limb-girdle muscular dystrophy type 2R1, MONDO:0014977 27807076;29034878;31897643;33861953 False 2 100;0;0 30.133 False ENSG00000163389 ENSG00000163389 HGNC:22954 PPA2 gene PPA2 NHS GMS;Expert Review Amber;Expert Review Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, OMIM:617222 False 2 0;100;0 30.133 False ENSG00000138777 ENSG00000138777 HGNC:28883 RDH11 gene RDH11 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108;Neurodevelopmental delay, HP:0012758;Juvenile cataract, HP:0001118 24916380;34988992;41459630;41904678 False 2 100;0;0 30.133 False ENSG00000072042 ENSG00000072042 HGNC:17964 REEP1 gene REEP1 Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751 22703882;18321925 False 2 0;50;50 30.133 False ENSG00000068615 ENSG00000068615 HGNC:25786 SETX gene SETX Expert Review Amber;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 15106121;12023320 False 2 0;100;0 30.133 False ENSG00000107290 ENSG00000107290 HGNC:445 SLC25A42 gene SLC25A42 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416 26541337;29923093;29327420 False 2 0;33;67 30.133 False ENSG00000181035 ENSG00000181035 HGNC:28380 SPTAN1 gene SPTAN1 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy, MONDO:0018949 40023774;40999194 False 2 100;0;0 30.133 False ENSG00000197694 ENSG00000197694 HGNC:11273 SRPK3 gene SRPK3 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Slowly progressive myopathy, digenic 16140986;38429495;39667923 False 2 100;0;0 30.133 False ENSG00000184343 ENSG00000184343 HGNC:11402 SVIL gene SVIL Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10, OMIM:619040;myofibrillar myopathy 10, MONDO:0033620 False 2 0;100;0 30.133 False ENSG00000197321 ENSG00000197321 HGNC:11480 SVIL gene SVIL Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10, OMIM:619040;myofibrillar myopathy 10, MONDO:0033620 32779703 False 2 0;100;0 30.133 False ENSG00000197321 ENSG00000197321 HGNC:11480 TCAP gene TCAP Expert Review Amber;Emory Genetics Laboratory Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954 23479141;21530252 False 2 0;50;50 30.133 False ENSG00000173991 ENSG00000173991 HGNC:11610 TK2 gene TK2 Expert Review Amber;NHS GMS Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 22345218;23303857;24198295;25948719;35280287;37527940;38544965;40098049 False 2 100;0;0 30.133 False ENSG00000166548 ENSG00000166548 HGNC:11831 TK2 gene TK2 Expert Review Amber;NHS GMS Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 11687801;18021809;18819985;19736010;38544965;40098049 False 2 100;0;0 30.133 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166548 ENSG00000166548 HGNC:11831 UNC13A gene UNC13A Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal congenital myasthenic syndrome, MONDO:0018940;Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455 27648472;28192369;39634123 False 2 25;25;50 30.133 False ENSG00000130477 ENSG00000130477 HGNC:23150 VAPB gene VAPB Expert Review Amber;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Other rare neuromuscular disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980;Amyotrophic lateral sclerosis 8, OMIM:608627 15372378 False 2 0;33;67 30.133 False ENSG00000124164 ENSG00000124164 HGNC:12649 VWA1 gene VWA1 Expert Review Amber;NHS GMS;Literature Other rare neuromuscular disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216;neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 33459760;39502942 False 2 0;100;0 30.133 False ENSG00000179403 ENSG00000179403 HGNC:30910 PABPN1_GCN str PABPN1 Expert Review Amber;Literature Other rare neuromuscular disorders Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Oculopharyngeal muscular dystrophy, OMIM:164300;oculopharyngeal muscular dystrophy, MONDO:0008116 27858728;28011929 False 2 100;0;0 30.133 False ENSG00000100836 ENSG00000100836 HGNC:8565 14 23790682 23790711 23321473 23321501 GCN 10 11