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 ALG14 gene ALG14 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myopathy MONDO:0019952 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 38982518;28733338 False 2 0;100;0 1.85 True ENSG00000172339 ENSG00000172339 HGNC:28287 B3GNT2 gene B3GNT2 Expert Review Amber;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 23359570;23877401 False 2 0;100;0 1.85 True ENSG00000170340 ENSG00000170340 HGNC:15629 BET1 gene BET1 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with rapid progression, MIM# 254100 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 34779586 False 2 0;100;0 1.85 True ENSG00000105829 ENSG00000105829 HGNC:14562 CAPN3 gene CAPN3 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy, limb-girdle, autosomal recessive 1 253600" Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 31937337 False 2 50;50;0 1.85 True ENSG00000092529 ENSG00000092529 HGNC:1480 CASQ1 gene CASQ1 Expert list;Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tubular aggregate myopathy MONDO:0008051 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 38982518 False 2 0;100;0 1.85 True Other ENSG00000143318 ENSG00000143318 HGNC:1512 CCDC78 gene CCDC78 Expert list;Expert Review Amber;Other;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear Myopathy (MIM#614807;MONDO: 0018947) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 22818856 False 2 0;100;0 1.85 True ENSG00000162004 ENSG00000162004 HGNC:14153 CHRNA1 gene CHRNA1 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myopathy MONDO:0019952 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 36634413;38982518 False 2 0;100;0 1.85 True ENSG00000138435 ENSG00000138435 HGNC:1955 CNTN1 gene CNTN1 Expert list;Expert Review Amber;Other;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929;MIM#612540) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 10926398 False 2 0;100;0 1.85 True ENSG00000018236 ENSG00000018236 HGNC:2171 COL4A1 gene COL4A1 Expert Review;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773;Brain small vessel disease with or without ocular anomalies MIM#175780;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 23065703;20818663;25719457;21625620;23225343 False 2 50;50;0 1.85 True Other ENSG00000187498 ENSG00000187498 HGNC:2202 COL9A2 gene COL9A2 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 2 MIM#600204" Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 20508815;20358595 False 2 0;100;0 1.85 True ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969" Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 10655510 False 2 0;100;0 1.85 True ENSG00000092758 ENSG00000092758 HGNC:2219 COMP gene COMP Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 1 MIM#132400" Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 20508815;14684695;15880723 False 2 0;100;0 1.85 True ENSG00000105664 ENSG00000105664 HGNC:2227 DPM2 gene DPM2 Expert Review;Expert Review Amber;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, MIM# 615042 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 23109149 False 2 0;100;0 1.85 True ENSG00000136908 ENSG00000136908 HGNC:3006 HRAS gene HRAS Expert Review Amber;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital myopathy with excess of muscle spindles (MIM#218040) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 17412879 False 2 0;100;0 1.85 True ENSG00000174775 ENSG00000174775 HGNC:5173 MAMDC2 gene MAMDC2 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular Dystrophy MONDO:0020121, MAMDC2-related Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 37503746 False 2 0;100;0 1.85 True ENSG00000165072 ENSG00000165072 HGNC:23673 MTMR14 gene MTMR14 Expert list;Expert Review Amber;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Centronuclear myopathy, autosomal, modifier of} (MIM#160150) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 20400459;20817957;19465920;17008356 False 2 0;100;0 1.85 True ENSG00000163719 ENSG00000163719 HGNC:26190 MYL1 gene MYL1 Expert Review Amber;NHS GMS;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 14 (MIM#618414) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 30215711 False 2 0;100;0 1.85 True ENSG00000168530 ENSG00000168530 HGNC:7582 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, PACSIN3-related Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 38637313 False 2 0;100;0 1.85 True ENSG00000165912 ENSG00000165912 HGNC:8572 POGLUT1 gene POGLUT1 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, MONDO:0020121, POGLUT1-related Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 33861953 False 2 0;100;0 1.85 True ENSG00000163389 ENSG00000163389 HGNC:22954 TNNC2 gene TNNC2 Expert Review Amber;Expert Review Green;Literature;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital Myopathy 15 (MIM#62016) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 33755597 False 2 50;50;0 1.85 True ENSG00000101470 ENSG00000101470 HGNC:11944 TUBA4A gene TUBA4A Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital myopathy MONDO:0019952 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 38413182 False 2 0;100;0 1.85 True ENSG00000127824 ENSG00000127824 HGNC:12407