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;Expert Review Green Distal myopathies Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 False 3 100;0;0 6.18 False ENSG00000143632 ENSG00000143632 HGNC:129 ADSSL1 gene ADSSL1 Expert Review;Expert Review Green;NHS GMS Distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, distal, 5, OMIM:617030 26506222;28268051;32331917;32646962;35668205 False 3 67;33;0 6.18 False ENSG00000185100 ENSG00000185100 HGNC:20093 ANO5 gene ANO5 Expert Review;Expert Review Green Distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 3, 613319 20096397 False 3 100;0;0 6.18 False ENSG00000171714 ENSG00000171714 HGNC:27337 BAG3 gene BAG3 Expert Review;Expert Review Green Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myofibrillar myopathy 6, 612954 21361913; 19085932 False 3 100;0;0 6.18 False ENSG00000151929 ENSG00000151929 HGNC:939 CRYAB gene CRYAB Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, myofibrillar, 2, OMIM:608810;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 False 3 100;0;0 6.18 False ENSG00000109846 ENSG00000109846 HGNC:2389 DES gene DES Eligibility statement prior genetic testing;Expert Review Green Distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, myofibrillar 1, 601419 20718792 False 3 100;0;0 6.18 False ENSG00000175084 ENSG00000175084 HGNC:2770 DNAJB6 gene DNAJB6 Expert Review;Expert Review Green Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted limb-girdle muscular dystrophy type 1E, 603511 False 3 100;0;0 6.18 False ENSG00000105993 ENSG00000105993 HGNC:14888 DNM2 gene DNM2 Expert Review;Expert Review Green Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear myopathy 1, OMIM:160150 False 3 100;0;0 6.18 False ENSG00000079805 ENSG00000079805 HGNC:2974 DYSF gene DYSF Expert Review;Expert Review Green Distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1, 254130 20301480 False 3 100;0;0 6.18 False ENSG00000135636 ENSG00000135636 HGNC:3097 FHL1 gene FHL1 Expert Review;Expert Review Green Distal myopathies Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 22094483; 7709723 False 3 100;0;0 6.18 False ENSG00000022267 ENSG00000022267 HGNC:3702 FLNC gene FLNC Expert Review;Expert Review Green Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, distal, 4, OMIM:614065;Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550;Myopathy, myofibrillar, 5, OMIM:609524;Myopathy, myofibrillar, 5, MONDO:0012289 21620354; 15824355; 15929027 False 3 100;0;0 6.18 False ENSG00000128591 ENSG00000128591 HGNC:3756 GNE gene GNE Expert Review;Expert Review Green Distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy, 605820 16372135 False 3 0;0;0 6.18 False ENSG00000159921 ENSG00000159921 HGNC:23657 HSPB1 gene HSPB1 Expert list;Expert Review Green Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neuropathy, distal hereditary motor type IIB, 608634 " 27830184 False 3 100;0;0 6.18 False ENSG00000106211 ENSG00000106211 HGNC:5246 HSPB8 gene HSPB8 Expert Review;Expert Review Green Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, distal hereditary motor type IIA, 158590; distal myopathy 26718575 False 3 100;0;0 6.18 False ENSG00000152137 ENSG00000152137 HGNC:30171 LDB3 gene LDB3 Eligibility statement prior genetic testing;Expert Review Green Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar 4, 609452 15668942 False 3 100;0;0 6.18 False ENSG00000122367 ENSG00000122367 HGNC:15710 MATR3 gene MATR3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Distal Myopathy False 3 100;0;0 6.18 False ENSG00000015479 ENSG00000015479 HGNC:6912 MYH7 gene MYH7 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Laing distal myopathy, OMIM:160500;Laing early-onset distal myopathy, MONDO:0008050;Scapuloperoneal syndrome, myopathic type, OMIM:181430;MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409 20301606 False 3 100;0;0 6.18 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYOT gene MYOT Eligibility statement prior genetic testing;Expert Review Green Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 3, OMIM:609200;Myopathy, spheroid body, OMIM:182920 15111675 False 3 100;0;0 6.18 False ENSG00000120729 ENSG00000120729 HGNC:12399 NEB gene NEB Expert Review;Expert Review Green;NHS GMS Distal myopathies Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Nemaline myopathy 2, OMIM:256030;distal myopathy, MONDO:0018949 12207937;30679003;39474605;40517164 False 3 100;0;0 6.18 False ENSG00000183091 ENSG00000183091 HGNC:7720 SMPX gene SMPX Expert Review Green;Literature;NHS GMS Distal myopathies Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075;myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771 33974137 False 3 100;0;0 6.18 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000091482 ENSG00000091482 HGNC:11122 SQSTM1 gene SQSTM1 Expert Review;Expert Review Green Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystal Myopathy with rimmed vacuoles, 617158 26208961 False 3 100;0;0 6.18 False ENSG00000161011 ENSG00000161011 HGNC:11280 TIA1 gene TIA1 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Welander distal myopathy, OMIM:604454;distal myopathy, Welander type, MONDO:0011466 23401021;13469174;10482271 False 3 100;0;0 6.18 False ENSG00000116001 ENSG00000116001 HGNC:11802 TTN gene TTN Expert Review Green;Illumina TruGenome Clinical Sequencing Services Distal myopathies Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Tibial muscular dystrophy, tardive, 600334 12145747 False 3 100;0;0 6.18 False ENSG00000155657 ENSG00000155657 HGNC:12403 VCP gene VCP Expert Review;Expert Review Green Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 21684747 False 3 100;0;0 6.18 False ENSG00000165280 ENSG00000165280 HGNC:12666 HNRNPA1 gene HNRNPA1 Expert Review Amber;Other Distal myopathies 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 6.18 False ENSG00000135486 ENSG00000135486 HGNC:5031 LRIF1 gene LRIF1 Expert Review Amber;Literature Distal myopathies Neurology BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy 32467133 False 2 0;100;0 6.18 False ENSG00000121931 ENSG00000121931 HGNC:30299 SPTAN1 gene SPTAN1 Expert Review Amber;Literature Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy, MONDO:0018949 40023774;40999194 False 2 100;0;0 6.18 False ENSG00000197694 ENSG00000197694 HGNC:11273 CNBP gene CNBP Expert Review;Expert Review Red;NHS GMS Distal myopathies Neurology Other Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266 False 1 50;0;50 6.18 False Other - please provide details in the comments ENSG00000169714 ENSG00000169714 HGNC:13164 DMD gene DMD Eligibility statement prior genetic testing;Expert Review Red Distal myopathies Neurology False 1 0;0;0 6.18 False ENSG00000198947 ENSG00000198947 HGNC:2928 DMPK gene DMPK Eligibility statement prior genetic testing;Expert Review Red Distal myopathies Neurology Other Myotonic dystrophy 1, OMIM:160900 False 1 100;0;0 6.18 False Other - please provide details in the comments ENSG00000104936 ENSG00000104936 HGNC:2933 DUX4 gene DUX4 Eligibility statement prior genetic testing;Expert Review Red Distal myopathies Neurology FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A) False 1 0;0;0 6.18 False Other - please provide details in the comments ENSG00000258389 ENSG00000260596 HGNC:50800 GIPC1 gene GIPC1 Expert Review Red;Literature Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculopharyngodistal myopathy 2, OMIM:618940;oculopharyngodistal myopathy 2, MONDO:0030134 32413282;33374016 False 1 50;0;50 6.18 False Other ENSG00000123159 ENSG00000123159 HGNC:1226 KLHL9 gene KLHL9 Expert list;Expert Review Red Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy (no OMIM number) 20554658 False 1 100;0;0 6.18 False ENSG00000198642 ENSG00000198642 HGNC:18732 AR_CAG str AR Expert Review Green;NHS GMS;Expert list Distal myopathies Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 False 3 0;0;0 6.18 True ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545316 67545383 CAG 35 38 CNBP_CCTG str CNBP Expert Review Green;NHS GMS;Expert list Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266 False 3 100;0;0 6.18 False ENSG00000169714 ENSG00000169714 HGNC:13164 3 128891420 128891499 129172577 129172656 CCTG 27 75 GIPC1_GGC str GIPC1 Literature Distal myopathies Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Oculopharyngodistal myopathy 2, OMIM:618940 32413282;33374016 False 1 100;0;0 6.18 False ENSG00000123159 ENSG00000123159 HGNC:1226 19 14496041 14496074 GGC 32 73