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 Review Amber;Expert list;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "VLCAD deficiency 201475" Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 9546340;32558070;22097235;24305961 False 2 50;50;0 4.165 True ENSG00000072778 ENSG00000072778 HGNC:92 ALG14 gene ALG14 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myopathy MONDO:0019952 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38982518;28733338 False 2 0;100;0 4.165 True ENSG00000172339 ENSG00000172339 HGNC:28287 ANXA11 gene ANXA11 Expert Review Amber;Literature;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Myopathy;HP:0003198; Muscle weakness;HP:0001324 34048612 False 2 0;100;0 4.165 True ENSG00000122359 ENSG00000122359 HGNC:535 ASPH gene ASPH Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Exertional heat illness;malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 35697689 False 2 50;50;0 4.165 True ENSG00000198363 ENSG00000198363 HGNC:757 ASPH gene ASPH Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Exertional heat illness;malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 35697689 False 2 0;100;0 4.165 True ENSG00000198363 ENSG00000198363 HGNC:757 ATP2A1 gene ATP2A1 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brody myopathy MIM#601003 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32040565 False 2 0;100;0 4.165 True ENSG00000196296 ENSG00000196296 HGNC:811 B3GNT2 gene B3GNT2 Expert Review Amber;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy Myopathy;HP:0003198; Muscle weakness;HP:0001324 23359570;23877401 False 2 0;100;0 4.165 True ENSG00000170340 ENSG00000170340 HGNC:15629 BET1 gene BET1 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with rapid progression, MIM# 254100 Myopathy;HP:0003198; Muscle weakness;HP:0001324 34779586 False 2 0;100;0 4.165 True ENSG00000105829 ENSG00000105829 HGNC:14562 CAPN3 gene CAPN3 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy, limb-girdle, autosomal recessive 1 253600" Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 31937337 False 2 50;50;0 4.165 True ENSG00000092529 ENSG00000092529 HGNC:1480 CASQ1 gene CASQ1 Expert Review Amber;Literature;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tubular aggregate myopathy MONDO:0008051 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38982518 False 2 0;100;0 4.165 True Other ENSG00000143318 ENSG00000143318 HGNC:1512 CCDC78 gene CCDC78 Expert Review Amber;Other;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear Myopathy (MIM#614807;MONDO: 0018947) Myopathy;HP:0003198; Muscle weakness;HP:0001324 22818856 False 2 0;100;0 4.165 True ENSG00000162004 ENSG00000162004 HGNC:14153 CHKB gene CHKB Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal megaconial type congenital muscular dystrophy MONDO:0011246;CHKB-Related Muscular Dystrophy Myopathy;HP:0003198; Muscle weakness;HP:0001324 37011121 False 2 50;50;0 4.165 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHKB gene CHKB Expert Review Amber;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal megaconial type congenital muscular dystrophy MONDO:0011246;recurrent rhabdomyolysis;CHKB-Related Muscular Dystrophy Myopathy;HP:0003198; Muscle weakness;HP:0001324 26782016;37011121;21665002;23692895;24997086 False 2 50;50;0 4.165 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHRNA1 gene CHRNA1 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myopathy MONDO:0019952 Myopathy;HP:0003198; Muscle weakness;HP:0001324 36634413;38982518 False 2 0;100;0 4.165 True ENSG00000138435 ENSG00000138435 HGNC:1955 CNTN1 gene CNTN1 Expert Review Amber;Other;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929;MIM#612540) Myopathy;HP:0003198; Muscle weakness;HP:0001324 10926398 False 2 0;100;0 4.165 True ENSG00000018236 ENSG00000018236 HGNC:2171 COL4A1 gene COL4A1 Expert Review Green;Expert Review Amber;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23065703;20818663;25719457;21625620;23225343 False 2 50;50;0 4.165 True Other ENSG00000187498 ENSG00000187498 HGNC:2202 COL9A2 gene COL9A2 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 2 MIM#600204" Myopathy;HP:0003198; Muscle weakness;HP:0001324 20508815;20358595 False 2 0;100;0 4.165 True ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969" Myopathy;HP:0003198; Muscle weakness;HP:0001324 10655510 False 2 0;100;0 4.165 True ENSG00000092758 ENSG00000092758 HGNC:2219 COMP gene COMP Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 1 MIM#132400" Myopathy;HP:0003198; Muscle weakness;HP:0001324 20508815;14684695;15880723 False 2 0;100;0 4.165 True ENSG00000105664 ENSG00000105664 HGNC:2227 CRYAB gene CRYAB Expert Review Green;Expert Review Amber;Expert list;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 2, MIM# 608810 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 21337604;32420686 False 2 25;75;0 4.165 True ENSG00000109846 ENSG00000109846 HGNC:2389 DNMT3B gene DNMT3B Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facioscapulohumeral muscular dystrophy MONDO:0001347 Myopathy;HP:0003198; Muscle weakness;HP:0001324 27153398;33004076 False 2 50;50;0 4.165 True ENSG00000088305 ENSG00000088305 HGNC:2979 DPM2 gene DPM2 Expert Review Amber;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, MIM# 615042 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23109149 False 2 0;100;0 4.165 True ENSG00000136908 ENSG00000136908 HGNC:3006 ETFB gene ETFB Expert Review Amber;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB 231680 Myopathy;HP:0003198; Muscle weakness;HP:0001324 12815589;7912128 False 2 0;100;0 4.165 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;Expert Review Amber;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Glutaric acidemia IIC 231680" Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 19592060;17412732 False 2 50;50;0 4.165 True ENSG00000171503 ENSG00000171503 HGNC:3483 HRAS gene HRAS Expert Review Amber;Other;Expert Review Amber Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital myopathy with excess of muscle spindles (MIM#218040) Myopathy;HP:0003198; Muscle weakness;HP:0001324 17412879 False 2 0;100;0 4.165 True ENSG00000174775 ENSG00000174775 HGNC:5173 KLHL9 gene KLHL9 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy MONDO:0018949 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20554658 False 2 0;100;0 4.165 True ENSG00000198642 ENSG00000198642 HGNC:18732 LAMP2 gene LAMP2 Expert Review Green;Expert Review Amber;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel 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) Myopathy;HP:0003198; Muscle weakness;HP:0001324 27179547;22541782 False 2 50;50;0 4.165 True ENSG00000005893 ENSG00000005893 HGNC:6501 LPIN1 gene LPIN1 Expert Review Green;Expert Review Amber;Expert Review;Expert Review Green;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200) Myopathy;HP:0003198; Muscle weakness;HP:0001324 28649549;18817903;32410653 False 2 67;33;0 4.165 True ENSG00000134324 ENSG00000134324 HGNC:13345 LRIF1 gene LRIF1 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy MONDO:0001347 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32467133 False 2 0;100;0 4.165 True ENSG00000121931 ENSG00000121931 HGNC:30299 MAMDC2 gene MAMDC2 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular Dystrophy MONDO:0020121, MAMDC2-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 37503746 False 2 0;100;0 4.165 True ENSG00000165072 ENSG00000165072 HGNC:23673 MAMDC2 gene MAMDC2 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular Dystrophy MONDO:0020121, MAMDC2-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 37503746 False 2 0;100;0 4.165 True ENSG00000165072 ENSG00000165072 HGNC:23673 MTMR14 gene MTMR14 Expert Review Amber;Other;Expert Review Amber;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Centronuclear myopathy, autosomal, modifier of} (MIM#160150) Myopathy;HP:0003198; Muscle weakness;HP:0001324 20400459;20817957;19465920;17008356 False 2 0;100;0 4.165 True ENSG00000163719 ENSG00000163719 HGNC:26190 MYL1 gene MYL1 Expert Review Amber;Other;NHS GMS Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 14 (MIM#618414) Myopathy;HP:0003198; Muscle weakness;HP:0001324 30215711 False 2 0;100;0 4.165 True ENSG00000168530 ENSG00000168530 HGNC:7582 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, PACSIN3-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 38637313 False 2 0;100;0 4.165 True ENSG00000165912 ENSG00000165912 HGNC:8572 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, PACSIN3-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 38637313 False 2 0;100;0 4.165 True ENSG00000165912 ENSG00000165912 HGNC:8572 PFKM gene PFKM Expert Review Amber;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII (MIM#232800) Myopathy;HP:0003198; Muscle weakness;HP:0001324 24427140;27066546;30792690 False 2 0;100;0 4.165 True ENSG00000152556 ENSG00000152556 HGNC:8877 POGLUT1 gene POGLUT1 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, MONDO:0020121, POGLUT1-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 33861953 False 2 0;100;0 4.165 True ENSG00000163389 ENSG00000163389 HGNC:22954 POMK gene POMK Expert Review Green;Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 24556084;24925318;29910097 False 2 50;50;0 4.165 True ENSG00000185900 ENSG00000185900 HGNC:26267 PYGM gene PYGM Expert Review Amber;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal McArdle disease (MIM#232600) Myopathy;HP:0003198; Muscle weakness;HP:0001324 29143597;25914343 False 2 0;100;0 4.165 True ENSG00000068976 ENSG00000068976 HGNC:9726 SLC52A1 gene SLC52A1 Expert Review Amber;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Maternal riboflavin deficiency MONDO:0014013" Myopathy;HP:0003198; Muscle weakness;HP:0001324 37510312;29122468;21089064 False 2 0;50;50 4.165 True ENSG00000132517 ENSG00000132517 HGNC:30225 SQSTM1 gene SQSTM1 Expert Review Amber;Literature;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myopathy, distal, with rimmed vacuoles MONDO:0014945;multisystem proteinopathy Myopathy;HP:0003198; Muscle weakness;HP:0001324 29599744;26208961;29457785 False 2 33;33;33 4.165 True Other ENSG00000161011 ENSG00000161011 HGNC:11280 SVIL gene SVIL Expert Review Amber;Other;Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10 (MIM#619040) Myopathy;HP:0003198; Muscle weakness;HP:0001324 32779703 False 2 0;100;0 4.165 True ENSG00000197321 ENSG00000197321 HGNC:11480 TIA1 gene TIA1 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal distal myopathy, Welander type MONDO:0011466 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23401021 False 2 0;100;0 4.165 True Other ENSG00000116001 ENSG00000116001 HGNC:11802 TMEM43 gene TMEM43 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677 Myopathy;HP:0003198; Muscle weakness;HP:0001324 21391237;30311943 False 2 0;100;0 4.165 True ENSG00000170876 ENSG00000170876 HGNC:28472 TNNC2 gene TNNC2 Expert Review Amber;Other;Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital Myopathy 15 (MIM#62016) Myopathy;HP:0003198; Muscle weakness;HP:0001324 33755597 False 2 50;50;0 4.165 True ENSG00000101470 ENSG00000101470 HGNC:11944 TNNT1 gene TNNT1 Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Nemaline myopathy 5, Amish type MIM#605355" Myopathy;HP:0003198; Muscle weakness;HP:0001324 31970803 False 2 50;50;0 4.165 True ENSG00000105048 ENSG00000105048 HGNC:11948 TRPV1 gene TRPV1 Expert Review Amber;Literature;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malignant hyperthermia susceptibility Myopathy;HP:0003198; Muscle weakness;HP:0001324 29930394;32471784 False 2 0;50;50 4.165 False ENSG00000196689 ENSG00000196689 HGNC:12716 TRPV1 gene TRPV1 Expert Review Amber;Literature;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exertional heat stroke;rhabdomyolysis Myopathy;HP:0003198; Muscle weakness;HP:0001324 32471784 False 2 0;33;67 4.165 True ENSG00000196689 ENSG00000196689 HGNC:12716 TUBA4A gene TUBA4A Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital myopathy MONDO:0019952 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 38413182 False 2 0;100;0 4.165 True ENSG00000127824 ENSG00000127824 HGNC:12407