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 ACADVL gene ACADVL Expert list;Expert Review Amber;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "VLCAD deficiency 201475" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 9546340;32558070;22097235;24305961 False 2 50;50;0 1.42 True ENSG00000072778 ENSG00000072778 HGNC:92 ANXA11 gene ANXA11 Expert Review Amber;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 34048612 False 2 0;100;0 1.42 True ENSG00000122359 ENSG00000122359 HGNC:535 CHKB gene CHKB Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal megaconial type congenital muscular dystrophy MONDO:0011246;CHKB-Related Muscular Dystrophy Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 37011121 False 2 50;50;0 1.42 True ENSG00000100288 ENSG00000100288 HGNC:1938 CRYAB gene CRYAB Expert list;Expert Review;Expert Review Amber;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 2, MIM# 608810 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 21337604;32420686 False 2 25;75;0 1.42 True ENSG00000109846 ENSG00000109846 HGNC:2389 DNMT3B gene DNMT3B Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facioscapulohumeral muscular dystrophy MONDO:0001347 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 27153398;33004076 False 2 50;50;0 1.42 True ENSG00000088305 ENSG00000088305 HGNC:2979 ETFDH gene ETFDH Expert list;Expert Review Amber;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Glutaric acidemia IIC 231680" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 19592060;17412732 False 2 50;50;0 1.42 True ENSG00000171503 ENSG00000171503 HGNC:3483 KLHL9 gene KLHL9 Expert Review Amber;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy MONDO:0018949 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 20554658 False 2 0;100;0 1.42 True ENSG00000198642 ENSG00000198642 HGNC:18732 LAMP2 gene LAMP2 Expert Review;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease (MIM#300257) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 27179547;22541782 False 2 50;50;0 1.42 True ENSG00000005893 ENSG00000005893 HGNC:6501 LPIN1 gene LPIN1 Expert list;Expert Review;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 28649549;18817903;32410653 False 2 67;33;0 1.42 True ENSG00000134324 ENSG00000134324 HGNC:13345 LRIF1 gene LRIF1 Expert Review Amber;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy MONDO:0001347 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 32467133 False 2 0;100;0 1.42 True ENSG00000121931 ENSG00000121931 HGNC:30299 MAMDC2 gene MAMDC2 Expert Review Amber;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular Dystrophy MONDO:0020121, MAMDC2-related Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 37503746 False 2 0;100;0 1.42 True ENSG00000165072 ENSG00000165072 HGNC:23673 PFKM gene PFKM Expert Review;Expert Review Amber Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII (MIM#232800) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 24427140;27066546;30792690 False 2 0;100;0 1.42 True ENSG00000152556 ENSG00000152556 HGNC:8877 POMK gene POMK Expert Review Amber;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 24556084;24925318;29910097 False 2 50;50;0 1.42 True ENSG00000185900 ENSG00000185900 HGNC:26267 PYGM gene PYGM Expert Review;Expert Review Amber Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal McArdle disease (MIM#232600) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 29143597;25914343 False 2 0;100;0 1.42 True ENSG00000068976 ENSG00000068976 HGNC:9726 SQSTM1 gene SQSTM1 Expert list;Expert Review Amber;Literature;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myopathy, distal, with rimmed vacuoles MONDO:0014945;multisystem proteinopathy Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 29599744;26208961;29457785 False 2 33;33;33 1.42 True Other ENSG00000161011 ENSG00000161011 HGNC:11280 SVIL gene SVIL Expert Review Amber;Literature;Other Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10 (MIM#619040) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 32779703 False 2 0;100;0 1.42 True ENSG00000197321 ENSG00000197321 HGNC:11480 TIA1 gene TIA1 Expert Review Amber;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal distal myopathy, Welander type MONDO:0011466 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 23401021 False 2 0;100;0 1.42 True Other ENSG00000116001 ENSG00000116001 HGNC:11802 TMEM43 gene TMEM43 Expert Review Amber;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 21391237;30311943 False 2 0;100;0 1.42 True ENSG00000170876 ENSG00000170876 HGNC:28472