Myopathy Superpanel (Version 4.165)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 369 Entitiess
Green List (high evidence)	AARS2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert Review Phenotypes Combined oxidative phosphorylation deficiency 8 MIM#614096 Tags
Green List (high evidence)	ABHD5 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Dorfman-Chanarin disease MONDO:0010155 Tags
Green List (high evidence)	ACAD9 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 Tags treatable
Green List (high evidence)	ACADM Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of 201450 Rhabdomyolysis Tags treatable
Green List (high evidence)	ACADVL Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes VLCAD deficiency 201475 Tags treatable
Green List (high evidence)	ACTA1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800 Tags
Green List (high evidence)	ACTA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Myopathy, scapulohumeroperoneal 616852 Tags
Green List (high evidence)	ACTN2 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Expert Review Amber Expert list Phenotypes Congenital Myopathy 8 (MIM#618654 MONDO: 0032852) Tags
Green List (high evidence)	ACTN2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Amber Victorian Clinical Genetics Services Phenotypes Myopathy, distal, 6, adult onset MIM#618655 Tags
Green List (high evidence)	ADSSL1 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy MONDO:0018958 Tags
Green List (high evidence)	ADSSL1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834 Tags
Green List (high evidence)	AGK Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Sengers Syndrome (MIM#212350 MONDO:0008922) Tags
Green List (high evidence)	AGL Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Glycogen storage disease IIIa 232400 Glycogen storage disease IIIb 232400 Tags
Green List (high evidence)	AHCY Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert list Expert list Victorian Clinical Genetics Services Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 Tags
Green List (high evidence)	AIFM1 Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Other Expert Review Green Expert Review Phenotypes Combined oxidative phosphorylation deficiency 6 (COXPD6) (MIM#300816) Encephalamyopathy, Mitochondrial, X-Linked Tags
Green List (high evidence)	ALDOA Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XII 611881 Tags
Green List (high evidence)	ANO5 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Miyoshi muscular dystrophy 3 613319 Muscular dystrophy, limb-girdle, type 2L 611307 Tags
Green List (high evidence)	ANO5 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2L, 611307 Miyoshi muscular dystrophy 3, 613319 Tags
Green List (high evidence)	ASCC1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Congenital Myopathy - MONDO:0019952 Tags
Green List (high evidence)	ASCC3 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 81, MIM# 620700 Tags
Green List (high evidence)	ATP2A1 Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Brody myopathy, MIM# 601003 Tags
Green List (high evidence)	ATP2A1 Skeletal Muscle Channelopathies v1.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Brody myopathy 601003 Tags
Green List (high evidence)	ATP6V1A Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type IID MIM#617403 Tags
Green List (high evidence)	B3GALNT2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071 Tags
Green List (high evidence)	B4GAT1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287 Tags
Green List (high evidence)	BAG3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Myopathy, myofibrillar, 6 612954 Tags
Green List (high evidence)	BICD2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Phenotypes distal myopathy MONDO:0018949 Tags
Green List (high evidence)	BIN1 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Centronuclear myopathy 2 (MONDO: 0009709 MIM#255200) Tags
Green List (high evidence)	BVES Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Tags
Green List (high evidence)	C1QBP Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Victorian Clinical Genetics Services Phenotypes Progressive external opthalmoplegia mitochondrial myopathy Tags
Green List (high evidence)	CACNA1S Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Congenital myopathy MONDO:0019952 Tags
Green List (high evidence)	CACNA1S Skeletal Muscle Channelopathies v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Malignant hyperthermia susceptibility type 5 Hypokalemic periodic paralysis, type 1, 170400 Tags
Green List (high evidence)	CACNA1S Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes {Malignant hyperthermia susceptibility 5}, 601887 Tags
Green List (high evidence)	CACNA1S Malignant Hyperthermia Susceptibility v1.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes {Malignant hyperthermia susceptibility 5} MIM#601887 Tags
Green List (high evidence)	CAPN3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129 Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600 Tags
Green List (high evidence)	CASQ1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Literature Phenotypes Myopathy, vacuolar, with CASQ1 aggregates MIM#616231 Tags
Green List (high evidence)	CASQ1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Phenotypes Myopathy, vacuolar, with CASQ1 aggregates 616231 Tags founder
Green List (high evidence)	CAV3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Myopathy, distal, Tateyama type 614321 Rippling muscle disease 2 606072 Tags
Green List (high evidence)	CAV3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Phenotypes Caveolinopathy MONDO:0016146 Tags
Green List (high evidence)	CAV3 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type IC 607801 Rippling muscle disease 606072 Myopathy, distal, Tateyama type 614321 Tags
Green List (high evidence)	CAVIN1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Phenotypes Lipodystrophy, congenital generalized, type 4 (MIM#613327) Tags treatable
Green List (high evidence)	CFL2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy 7 (MONDO:0012538 MIM#610687) Tags
Green List (high evidence)	CHCHD10 Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Tags
Green List (high evidence)	CHKB Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541 Tags
Green List (high evidence)	CHRNA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156 Tags
Green List (high evidence)	CHST14 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Amber Expert Review Phenotypes Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776 Tags
Green List (high evidence)	CIAO1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 10, MIM#620960 Tags
Green List (high evidence)	CLCN1 Skeletal Muscle Channelopathies v1.1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myotonia congenita, dominant, 160800 Hyperkalemic Periodic Paralysis Myotonia Congenita Myotonia Myotonia congenita, recessive, 255700 Myotonia levior, recessive Tags
Green List (high evidence)	COL12A1 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ullrich congenital muscular dystrophy 2 , MIM# 616470 Tags
Green List (high evidence)	COL6A1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090 Tags
Green List (high evidence)	COL6A1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090 Tags
Green List (high evidence)	COL6A2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Green List (high evidence)	COL6A2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	COL6A3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	COL6A3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Green List (high evidence)	COQ8A Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags treatable
Green List (high evidence)	CPT2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110 Tags treatable
Green List (high evidence)	CSMD1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green List (high evidence)	DAG1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Tags
Green List (high evidence)	DAG1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Walker-Warburg syndrome and tectocerebellar dysgraphia Tags
Green List (high evidence)	DES Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myopathy, myofibrillar, 1 601419 Tags
Green List (high evidence)	DGUOK Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Portal hypertension, noncirrhotic, 1, MIM# 617068 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070 Tags
Green List (high evidence)	DHX16 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Literature Phenotypes Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733 MONDO:0032890) Tags
Green List (high evidence)	DM1 STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Myotonic dystrophy 1 MIM#160900 Tags
Green List (high evidence)	DMD Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Duchenne muscular dystrophy 310200 Becker muscular dystrophy 300376 Tags
Green List (high evidence)	DMD Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Duchenne muscular dystrophy (MIM#310200) Becker muscular dystrophy (MIM#300376) Tags SV/CNV
Green List (high evidence)	DMD Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Becker muscular dystrophy 300376 Tags
Green List (high evidence)	DNA2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 Tags
Green List (high evidence)	DNAJB4 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Expert Review Green Literature Phenotypes distal myopathy MONDO:0018949 Myopathy, MONDO:0005336, DNAJB4-related Tags
Green List (high evidence)	DNAJB4 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Literature Phenotypes Congenital Myopathy 21 with early respiratory failure (MIM#620326 MONDO:005336) Tags
Green List (high evidence)	DNAJB6 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	DNAJB6 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 1E, 603511 Tags
Green List (high evidence)	DNM2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Centronuclear Myopathy 1 (MIM#160150 MONDO:0008048) Tags
Green List (high evidence)	DNM2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant centronuclear myopathy MONDO:0008048 Tags
Green List (high evidence)	DOK7 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 10 254300 Tags
Green List (high evidence)	DOLK Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Green List (high evidence)	DPAGT1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes tubular aggregate myopathy MONDO:0008051 Tags
Green List (high evidence)	DPM1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	Unknown	Sources Expert Review Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	DPM3 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992 Tags
Green List (high evidence)	DPM3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937 Tags
Green List (high evidence)	DTNA Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, MONDO:0020121, DTNA-related Tags
Green List (high evidence)	DTNA Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, MONDO:0020121, DTNA-related Tags
Green List (high evidence)	DYNC1H1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600 MONDO:0008026) Tags
Green List (high evidence)	DYSF Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myopathy, distal, with anterior tibial onset, 606768 Miyoshi muscular dystrophy 1, 254130 Muscular dystrophy, limb-girdle, type 2B, 253601 Tags
Green List (high evidence)	DYSF Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2B 253601 Myopathy, distal, with anterior tibial onset 606768 Miyoshi muscular dystrophy 1 254130 Tags
Green List (high evidence)	DYSF Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	EMD Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300 Tags
Green List (high evidence)	EMD Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300 Tags
Green List (high evidence)	ENO3 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Glycogen storage disease XIII 612932 Tags
Green List (high evidence)	EPG5 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Vici Syndrome (MONDO: 0009452 MIM#242840) Tags
Green List (high evidence)	ETFA Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Glutaric acidemia IIA 231680 Tags treatable
Green List (high evidence)	ETFDH Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Glutaric acidemia IIC 231680 Tags treatable
Green List (high evidence)	FAM111B Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Green Phenotypes Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Tags
Green List (high evidence)	FASTKD2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes Combined oxidative phosphorylation deficiency 44 (MIM#618855) Tags
Green List (high evidence)	FDX2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Tags
Green List (high evidence)	FHL1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Expert list Phenotypes Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717 Tags
Green List (high evidence)	FHL1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Reducing body myopathy MONDO:0019948 X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680 Tags
Green List (high evidence)	FILIP1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Phenotypes Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775 Tags
Green List (high evidence)	FKBP14 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800 Tags
Green List (high evidence)	FKRP Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes myopathy caused by variation in FKRP MONDO:0700066 Tags
Green List (high evidence)	FKRP Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Limb-girdle muscular dystrophy Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green List (high evidence)	FKRP Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Tags
Green List (high evidence)	FKTN Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800 Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 Cardiomyopathy, dilated, 1X, 611615 Tags
Green List (high evidence)	FKTN Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy MONDO:0018276 Tags
Green List (high evidence)	FLAD1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 Tags
Green List (high evidence)	FLNC Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Phenotypes Cardiomyopathy, familial restrictive 5 617047 Myopathy, distal, 4 614065 Myopathy, myofibrillar, 5 609524 Tags
Green List (high evidence)	FXR1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823 MONDO:0032937) Tags
Green List (high evidence)	GAA Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glycogen storage disease II 232300 Tags
Green List (high evidence)	GAA Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Glycogen storage disease II (MIM#232300) Tags
Green List (high evidence)	GBE1 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IV, MIM# 232500 Polyglucosan body disease, adult form MIM#263570 Tags
Green List (high evidence)	GFER Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (MIM#613076) Tags
Green List (high evidence)	GFPT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Victorian Clinical Genetics Services Phenotypes Myasthenia, congenital, 12, with tubular aggregates MIM#610542 Limb-girdle congenital myasthenic syndrome Tags
Green List (high evidence)	GGPS1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518 Muscular dystrophy Deafness Ovarian insufficiency Tags
Green List (high evidence)	GMPPB Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	Unknown	Sources Expert Review Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	GMPPB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 Tags
Green List (high evidence)	GMPPB Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352 Limb myalgia exercise intolerance myoglobinuria Tags
Green List (high evidence)	GNE Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Nonaka myopathy (MIM#605820) Tags
Green List (high evidence)	GOLGA2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 Tags
Green List (high evidence)	GOSR2 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy, congenital, with or without seizures, MIM# 620166 Tags
Green List (high evidence)	GUK1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 21, MIM# 621071 Tags
Green List (high evidence)	GYG1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyglucosan body myopathy 2, MIM# 616199 Glycogen storage disease XV , MIM# 613507 Tags
Green List (high evidence)	GYG1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Glycogen storage disease XV 613507 Polyglucosan body myopathy 2 616199 Tags
Green List (high evidence)	GYS1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease 0, muscle 611556 Tags
Green List (high evidence)	HACD1 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Congenital myopathy 11 (MIM#619967 MONDO:0019952) Tags
Green List (high evidence)	HADHA Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes LCHAD deficiency MIM#609016 Trifunctional protein deficiency MIM#609015 Tags treatable
Green List (high evidence)	HADHB Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Trifunctional protein deficiency MIM#609015 Tags treatable
Green List (high evidence)	HMBS Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Porphyria, acute intermittent MIM#176000 Tags
Green List (high evidence)	HMGCR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related Tags
Green List (high evidence)	HMGCS1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Rigid spine syndrome, MONDO:0019951, HMGCS1-related Tags
Green List (high evidence)	HNRNPA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Myopathy, distal, 3, MIM# 610099 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 Tags
Green List (high evidence)	HNRNPA2B1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Royal Melbourne Hospital Phenotypes oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460 Tags
Green List (high evidence)	HNRNPDL Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 1G 609115 Tags
Green List (high evidence)	HSPB8 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 Tags
Green List (high evidence)	INPP4A Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes INPP4A-related neurodevelopmental disorder Tags
Green List (high evidence)	INPP5K Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	ISCU Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Myopathy with lactic acidosis, hereditary, MIM# 255125 Tags
Green List (high evidence)	ISPD Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 Tags SV/CNV
Green List (high evidence)	ISPD Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 Tags
Green List (high evidence)	ITGA7 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204 Tags
Green List (high evidence)	JAG2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566 muscular dystrophy Tags
Green List (high evidence)	JAG2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Literature Phenotypes muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0030456 Tags
Green List (high evidence)	JPH1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Congenital myopathy 25, MIM# 620964 Tags
Green List (high evidence)	KBTBD13 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy 6, autosomal dominant (MIM# 609273 MONDO:0012237) Tags
Green List (high evidence)	KCNA1 Skeletal Muscle Channelopathies v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes EA1 Episodic ataxia/myokymia syndrome, 160120 Myokymia Episodic Ataxia Episodic Ataxia, Type 1 Tags
Green List (high evidence)	KCNJ2 Skeletal Muscle Channelopathies v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypokalemic Periodic Paralysis, Type 2 Periodic paralysis Andersen syndrome, MIM# 170390 Episodic weakness Andersen syndrome Tags
Green List (high evidence)	KLHL40 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348 Tags
Green List (high evidence)	KLHL41 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline Myopathy 9 (MIM#615731 MONDO:0014326) Tags
Green List (high evidence)	KY Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Myopathy, myofibrillar, 7 (MIM#617114) Tags
Green List (high evidence)	LAMA2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 Tags
Green List (high evidence)	LAMA2 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 Tags
Green List (high evidence)	LAMP2 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Danon disease, MIM# 300257 MONDO:0010281 Tags
Green List (high evidence)	LARGE1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	LDB3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Phenotypes myofibrillar myopathy 4 MONDO:0012277 Tags
Green List (high evidence)	LDHA Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease XI, MIM# 612933 Tags
Green List (high evidence)	LMNA Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	LMNA Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350) Tags
Green List (high evidence)	LMOD3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy 10 (MIM# 616165 MONDO:0014513) Tags
Green List (high evidence)	LPIN1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Myoglobinuria, acute recurrent, autosomal recessive 268200 Tags
Green List (high evidence)	MAN2B1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Phenotypes Alpha-mannosidosis MONDO:0009561 Tags
Green List (high evidence)	MAP3K20 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Royal Melbourne Hospital Phenotypes Centronuclear myopathy 6 with fiber-type disproportion (MIM#617760 MONDO:0054695) Tags
Green List (high evidence)	MATR3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes distal myopathy with vocal cord weakness MONDO:0018951 Tags
Green List (high evidence)	MB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Expert Review Green Literature Phenotypes Myopathy, sarcoplasmic body MIM#620286 Tags
Green List (high evidence)	MEGF10 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Phenotypes MEGF10-Related Myopathy MONDO:0013731 Tags
Green List (high evidence)	MGME1 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes mitochondrial DNA depletion syndrome 11 MONDO:0014039 Tags
Green List (high evidence)	MICU1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy with extrapyramidal signs, MIM# 615673 Tags founder
Green List (high evidence)	MLIP Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Tags
Green List (high evidence)	MPDU1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green List (high evidence)	MRUPAV STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes myopathy, distal, with rimmed vacuoles MONDO:0014945 Tags
Green List (high evidence)	MSTO1 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert list Phenotypes Myopathy, mitochondrial, and ataxia (MIM#617675) Tags
Green List (high evidence)	MTM1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Expert Review Green Expert list Phenotypes X-linked myotubular myopathy MONDO:0010683 Tags
Green List (high evidence)	MTM1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Myotubular myopathy, X-linked, 310400 Tags
Green List (high evidence)	MYBPC1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other NHS GMS Phenotypes Congenital Myopathy 16 (MIM#618524) Tags
Green List (high evidence)	MYH2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Phenotypes Myopathy, proximal, and ophthalmoplegia MONDO:0011577 Tags
Green List (high evidence)	MYH7 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Expert list Phenotypes MYH7-related skeletal myopathy MONDO:0008050 Tags
Green List (high evidence)	MYH7 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Expert Review Green Expert list Phenotypes Laing distal myopathy (MIM#160500) Scapuloperoneal syndrome, myopathic type (MIM#181430) Tags
Green List (high evidence)	MYL2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424) Tags
Green List (high evidence)	MYMK Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert Review Phenotypes Carey-Fineman-Ziter syndrome MONDO:0009700 Tags
Green List (high evidence)	MYMX Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Carey-Fineman-Ziter syndrome MONDO:0009700 Tags
Green List (high evidence)	MYO18B Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Phenotypes Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014689 Tags
Green List (high evidence)	MYOD1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Congenital Myopathy 17 (MIM#618975) Tags
Green List (high evidence)	MYOT Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Myopathy, myofibrillar, 3 (MIM#609200) Tags
Green List (high evidence)	MYPN Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Nemaline Myopathy (MIM#617336 MONDO:0018958) Tags
Green List (high evidence)	NEB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes distal myopathy MONDO:0018949 Tags
Green List (high evidence)	NEB Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Nemaline Myopathy 2 (MIM#256030 MONDO: 0009725) Tags
Green List (high evidence)	NIID STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neuronal intranuclear inclusion disease MIM#603472 Oculopharyngodistal myopathy 3 MIM#619473 Tremor, hereditary essential, 6 MIM#618866 Tags
Green List (high evidence)	OBSCN Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Rhabdomyolysis, MONDO:0005290, OBSCN-related Tags
Green List (high evidence)	OPA1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Phenotypes optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429 Tags
Green List (high evidence)	OPDM1 STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Oculopharyngodistal myopathy 1 MIM#164310 Tags
Green List (high evidence)	OPDM2 STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Oculopharyngodistal myopathy 2 MIM#618940 Tags
Green List (high evidence)	OPDM4_RILPL1_CGG STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Oculopharyngodistal myopathy MONDO:0025193 Tags
Green List (high evidence)	OPDM_ABCD3_GCC STR Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Oculopharyngodistal myopathy MONDO:0025193 Tags
Green List (high evidence)	ORAI1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes tubular aggregate myopathy MONDO:0008051 Tags
Green List (high evidence)	ORAI1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Myopathy, tubular aggregate, 2 (MIM#615883) Tags
Green List (high evidence)	PABPN1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes oculopharyngeal muscular dystrophy MONDO:0008116 Tags
Green List (high evidence)	PAX7 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Expert list Phenotypes Congenital myopathy 19 (MIM#618578) Tags
Green List (high evidence)	PFKM Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease VII, MIM# 232800 Tags
Green List (high evidence)	PGAM2 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease X, MIM# 261670 Tags
Green List (high evidence)	PGK1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Phosphoglycerate kinase 1 deficiency 300653 MONDO:0010392 Tags
Green List (high evidence)	PGM1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type It, MIM# 614921 Tags treatable
Green List (high evidence)	PHKA1 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscle glycogenosis, MIM# 300559 Tags
Green List (high evidence)	PLEC Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert Review Royal Melbourne Hospital Phenotypes Muscular dystrophy with epidermolysis bullosa simplex, 226670 Tags
Green List (high evidence)	PLEC Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723) Tags
Green List (high evidence)	PNPLA2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Phenotypes Neutral lipid storage disease with myopathy MIM#610717 Tags
Green List (high evidence)	PNPLA2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Neutral lipid storage disease with myopathy 610717 Tags
Green List (high evidence)	POGLUT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232) Tags
Green List (high evidence)	POLG Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459 Progressive external ophthalmoplegia, autosomal dominant 1 157640 Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700 Progressive external ophthalmoplegia, autosomal recessive 1 258450 Tags
Green List (high evidence)	POLG2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131 Tags
Green List (high evidence)	POMGNT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135 Tags
Green List (high evidence)	POMGNT1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	POMGNT2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 Tags
Green List (high evidence)	POMGNT2 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	POMK Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094 Tags
Green List (high evidence)	POMT1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	POMT1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green List (high evidence)	POMT2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	POMT2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Tags
Green List (high evidence)	POPDC3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848 Tags
Green List (high evidence)	PRKAG2 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Wolff-Parkinson-White syndrome 194200 Cardiomyopathy, hypertrophic 6 600858 Glycogen storage disease of heart, lethal congenital 261740 Tags
Green List (high evidence)	PUS1 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553 Tags
Green List (high evidence)	PYGM Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Glycogen storage disease V McArdle disease 232600 AR Tags
Green List (high evidence)	PYROXD1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myofibrillar myopathy 8 MONDO:0014993 Tags
Green List (high evidence)	PYROXD1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myopathy, myofibrillar, 8, 617258 adult-onset limb girdle muscular dystrophy Tags
Green List (high evidence)	RBCK1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency 615895 Tags
Green List (high evidence)	RFC4 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010 Tags
Green List (high evidence)	RMND1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes Combined oxidative phosphorylation defect type 11 MONDO:0013969 Tags
Green List (high evidence)	RRM2B Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Tags
Green List (high evidence)	RYR1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes {Malignant hyperthermia susceptibility 1}, 145600 Central core disease, 117000 King-Denborough syndrome, 145600 Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 Minicore myopathy with external ophthalmoplegia, 255320 Tags
Green List (high evidence)	RYR1 Malignant Hyperthermia Susceptibility v1.8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes {Malignant hyperthermia susceptibility 1} MIM#145600 Tags
Green List (high evidence)	RYR1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes calf predominant distal myopathy distal myopathy MONDO:0018949 Tags
Green List (high evidence)	RYR1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Central core disease (MIM#117000) Minicore myopathy with external ophthalmoplegia (MIM#255320) Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000) Tags
Green List (high evidence)	RYR1 Skeletal Muscle Channelopathies v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Royal Melbourne Hospital Expert Review Green Phenotypes Malignant hyperthermia Tags
Green List (high evidence)	SCN4A Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Paramyotonia congenita, 168300 Myotonia congenita, atypical, acetazolamide-responsive, 608390 Hypokalemic periodic paralysis, type 2, 613345 Myasthenic syndrome, congenital, 16, 614198 Hyperkalemic periodic paralysis, type 2, 170500 Tags
Green List (high evidence)	SCN4A Skeletal Muscle Channelopathies v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hyperkalemic Periodic Paralysis Hypokalemic periodic paralysis, type 2, 613 Thyrotoxic Periodic Paralysis, Susceptibility To, 2 Hypokalemic Periodic Paralysis Episodic weakness Myotonia Potassium-Aggravated Myotonia Hyperkalemic periodic paralysis, type 2, 170500 Myasthenic syndrome, acetazolamide-responsive, 614198 Tags
Green List (high evidence)	SCO2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451 Tags
Green List (high evidence)	SELENON Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, rigid spine, 1 (MIM#602771) Tags
Green List (high evidence)	SGCA Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Royal Melbourne Hospital Phenotypes Limb-girdle muscular dystrophy Muscular dystrophy, limb-girdle, type 2D, 608099 autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152 Tags
Green List (high evidence)	SGCA Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Tags
Green List (high evidence)	SGCB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2E, 604286 Tags
Green List (high evidence)	SGCD Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2F, 601287 Tags
Green List (high evidence)	SGCG Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type 2C, 253700 Tags
Green List (high evidence)	SIL1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Marinesco-Sjogren syndrome (MIM#248800) Tags
Green List (high evidence)	SIL1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Marinesco-Sjogren syndrome 248800 Tags
Green List (high evidence)	SLC22A5 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Royal Melbourne Hospital Phenotypes Carnitine deficiency, systemic primary 212140 Tags treatable
Green List (high evidence)	SLC25A20 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency MIM#212138 Tags
Green List (high evidence)	SLC25A32 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Phenotypes Exercise intolerance, riboflavin-responsive MONDO:0014795 Tags
Green List (high evidence)	SLC25A4 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418 Tags
Green List (high evidence)	SLC4A10 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746 Tags
Green List (high evidence)	SLC52A2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-van Laere syndrome 2 MONDO:0013867 Tags
Green List (high evidence)	SLC52A3 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Tags
Green List (high evidence)	SMCHD1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Green List (high evidence)	SMPX Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Literature Phenotypes Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075 Tags
Green List (high evidence)	SNUPN Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793 Tags
Green List (high evidence)	SNUPN Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793 Tags
Green List (high evidence)	SPEG Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Centronuclear myopathy 5, MIM# 615959 Tags
Green List (high evidence)	SRPK3 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related Tags digenic
Green List (high evidence)	STAC3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Congenital myopathy 13 (MIM#255995) Tags
Green List (high evidence)	STAC3 Malignant Hyperthermia Susceptibility v1.8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myopathy, congenital, Baily-Bloch MIM#255995 Tags
Green List (high evidence)	STIM1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Phenotypes tubular aggregate myopathy MONDO:0008051 Tags
Green List (high evidence)	STIM1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Myopathy, tubular aggregate, 1 (MIM#160565) Stormorken syndrome (MIM#185070) Tags
Green List (high evidence)	SUCLA2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Tags
Green List (high evidence)	SUCLG1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Phenotypes mitochondrial DNA depletion syndrome 9 MONDO:0009504 Tags
Green List (high evidence)	SYNE1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Tags
Green List (high evidence)	SYNE1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Tags
Green List (high evidence)	TAMM41 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139 Tags
Green List (high evidence)	TANGO2 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 Tags
Green List (high evidence)	TAZ Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Barth syndrome MIM#302060 Tags
Green List (high evidence)	TCAP Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green Expert Review Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2G, 601954 Tags
Green List (high evidence)	TK2 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Tags
Green List (high evidence)	TMEM126B Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032633 Tags
Green List (high evidence)	TMEM5 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041 Tags
Green List (high evidence)	TNNT1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy 5 MONDO:0011539 Nemaline myopathy MONDO:0018958 Tags
Green List (high evidence)	TNNT3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Nemaline myopathy MONDO:0018958 Tags
Green List (high evidence)	TNPO3 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 Tags
Green List (high evidence)	TOR1AIP1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072 Progeroid appearance Cataracts Microcephaly Deafness Contractures Tags
Green List (high evidence)	TPM2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Nemaline myopathy 4, autosomal dominant (MIM#609285) Tags
Green List (high evidence)	TPM3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Phenotypes Congenital myopathy 4A, autosomal dominant (MIM#255310) Congenital myopathy 4B, autosomal recessive (MIM#609284) Tags
Green List (high evidence)	TRAPPC11 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2S, 615356 Tags
Green List (high evidence)	TRAPPC11 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert Review Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 (MIM#615356) Tags
Green List (high evidence)	TRDN Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441 Tags
Green List (high evidence)	TRIM32 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2H, 254110 Tags
Green List (high evidence)	TRIP4 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066) Tags
Green List (high evidence)	TSFM Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 3 610505 Tags
Green List (high evidence)	TTN Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Royal Melbourne Hospital Phenotypes dilated cardiomyopathy Distal myopathy HMERF Myofibrillar myopathy Congenital myopathy Muscular dystrophy, limb-girdle, type 2J, 608807 arthrogryposis Tags
Green List (high evidence)	TTN Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert Review Phenotypes TTN-related myopathy MONDO:0100175 Tags digenic
Green List (high evidence)	TWNK Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Tags
Green List (high evidence)	UNC45B Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Tags
Green List (high evidence)	UNC45B Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Literature Phenotypes Myofibrillar myopathy 11 (MIM#619178) Tags
Green List (high evidence)	VCP Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 Tags
Green List (high evidence)	VMA21 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Phenotypes Myopathy, X-linked, with excessive autophagy (MIM#310440) Tags deep intronic
Green List (high evidence)	VPS13A Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes chorea-acanthocytosis MONDO:0008695 Tags
Green List (high evidence)	YARS2 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561 Tags
Amber List (moderate evidence)	ACADVL Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Green Expert list Phenotypes VLCAD deficiency 201475 Tags
Amber List (moderate evidence)	ALG14 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes congenital myopathy MONDO:0019952 Tags
Amber List (moderate evidence)	ANXA11 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Tags
Amber List (moderate evidence)	ASPH Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Exertional heat illness malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related Tags
Amber List (moderate evidence)	ASPH Malignant Hyperthermia Susceptibility v1.8	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Exertional heat illness malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related Tags
Amber List (moderate evidence)	ATP2A1 Malignant Hyperthermia Susceptibility v1.8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Brody myopathy MIM#601003 Tags
Amber List (moderate evidence)	B3GNT2 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy Tags
Amber List (moderate evidence)	BET1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, congenital, with rapid progression, MIM# 254100 Tags
Amber List (moderate evidence)	CAPN3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1 253600 Tags
Amber List (moderate evidence)	CASQ1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert list Phenotypes tubular aggregate myopathy MONDO:0008051 Tags
Amber List (moderate evidence)	CCDC78 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Centronuclear Myopathy (MIM#614807 MONDO: 0018947) Tags
Amber List (moderate evidence)	CHKB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes megaconial type congenital muscular dystrophy MONDO:0011246 CHKB-Related Muscular Dystrophy Tags
Amber List (moderate evidence)	CHKB Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes megaconial type congenital muscular dystrophy MONDO:0011246 recurrent rhabdomyolysis CHKB-Related Muscular Dystrophy Tags
Amber List (moderate evidence)	CHRNA1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital myopathy MONDO:0019952 Tags
Amber List (moderate evidence)	CNTN1 Muscular dystrophy and myopathy_Paediatric v1.85	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929 MIM#612540) Tags
Amber List (moderate evidence)	COL4A1 Muscular dystrophy and myopathy_Paediatric v1.85	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber Expert Review Victorian Clinical Genetics Services Phenotypes 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 Tags
Amber List (moderate evidence)	COL9A2 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epiphyseal dysplasia, multiple, 2 MIM#600204 Tags
Amber List (moderate evidence)	COL9A3 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969 Tags
Amber List (moderate evidence)	COMP Muscular dystrophy and myopathy_Paediatric v1.85	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epiphyseal dysplasia, multiple, 1 MIM#132400 Tags
Amber List (moderate evidence)	CRYAB Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber Expert list Expert Review Phenotypes Myopathy, myofibrillar, 2, MIM# 608810 Tags
Amber List (moderate evidence)	DNMT3B Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Amber List (moderate evidence)	DPM2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iu, MIM# 615042 Tags
Amber List (moderate evidence)	ETFB Rhabdomyolysis and Metabolic Myopathy v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Glutaric acidemia IIB 231680 Tags
Amber List (moderate evidence)	ETFDH Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Phenotypes Glutaric acidemia IIC 231680 Tags
Amber List (moderate evidence)	HRAS Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Expert Review Amber Phenotypes Congenital myopathy with excess of muscle spindles (MIM#218040) Tags
Amber List (moderate evidence)	KLHL9 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes distal myopathy MONDO:0018949 Tags
Amber List (moderate evidence)	LAMP2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Amber Expert Review Victorian Clinical Genetics Services Phenotypes Danon disease (MIM#300257) Tags
Amber List (moderate evidence)	LPIN1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert Review Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200) Tags
Amber List (moderate evidence)	LRIF1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Facioscapulohumeral muscular dystrophy MONDO:0001347 Tags
Amber List (moderate evidence)	MAMDC2 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Muscular Dystrophy MONDO:0020121, MAMDC2-related Tags
Amber List (moderate evidence)	MAMDC2 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Muscular Dystrophy MONDO:0020121, MAMDC2-related Tags
Amber List (moderate evidence)	MTMR14 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Expert Review Amber Expert list Phenotypes {Centronuclear myopathy, autosomal, modifier of} (MIM#160150) Tags
Amber List (moderate evidence)	MYL1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other NHS GMS Phenotypes Congenital Myopathy 14 (MIM#618414) Tags
Amber List (moderate evidence)	PACSIN3 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myopathy, MONDO:0005336, PACSIN3-related Tags
Amber List (moderate evidence)	PACSIN3 Rhabdomyolysis and Metabolic Myopathy v1.20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myopathy, MONDO:0005336, PACSIN3-related Tags
Amber List (moderate evidence)	PFKM Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Glycogen storage disease VII (MIM#232800) Tags
Amber List (moderate evidence)	POGLUT1 Muscular dystrophy and myopathy_Paediatric v1.85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, MONDO:0020121, POGLUT1-related Tags
Amber List (moderate evidence)	POMK Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 Tags
Amber List (moderate evidence)	PYGM Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes McArdle disease (MIM#232600) Tags
Amber List (moderate evidence)	SLC52A1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Maternal riboflavin deficiency MONDO:0014013 Tags
Amber List (moderate evidence)	SQSTM1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes myopathy, distal, with rimmed vacuoles MONDO:0014945 multisystem proteinopathy Tags
Amber List (moderate evidence)	SVIL Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Expert Review Amber Literature Phenotypes Myofibrillar myopathy 10 (MIM#619040) Tags
Amber List (moderate evidence)	TIA1 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes distal myopathy, Welander type MONDO:0011466 Tags
Amber List (moderate evidence)	TMEM43 Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.42	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677 Tags
Amber List (moderate evidence)	TNNC2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Expert Review Green Literature Phenotypes Congenital Myopathy 15 (MIM#62016) Tags
Amber List (moderate evidence)	TNNT1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 5, Amish type MIM#605355 Tags
Amber List (moderate evidence)	TRPV1 Malignant Hyperthermia Susceptibility v1.8	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Malignant hyperthermia susceptibility Tags
Amber List (moderate evidence)	TRPV1 Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Exertional heat stroke rhabdomyolysis Tags
Amber List (moderate evidence)	TUBA4A Muscular dystrophy and myopathy_Paediatric v1.85	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Congenital myopathy MONDO:0019952 Tags
Red List (low evidence)	AMACR Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes rhabdomyolysis Tags
Red List (low evidence)	AMPD1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Myopathy due to myoadenylate deaminase deficiency 615511 Rhabdomyolysis Tags disputed
Red List (low evidence)	ATP1A2 Skeletal Muscle Channelopathies v1.1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert Review Red Royal Melbourne Hospital Phenotypes Hypokalaemic periodic paralysis Tags
Red List (low evidence)	CACNB1 Skeletal Muscle Channelopathies v1.1	2 reviews 1 red	Not set	Sources Expert Review Red Expert list Expert Review Red Royal Melbourne Hospital Phenotypes ?Malignant hyperthermia susceptibility Tags
Red List (low evidence)	CACNB1 Malignant Hyperthermia Susceptibility v1.8	2 reviews 1 red	Unknown	Sources Other Expert Review Red Expert list Royal Melbourne Hospital Phenotypes Malignant hyperthermia susceptibility Tags
Red List (low evidence)	CASQ1 Skeletal Muscle Channelopathies v1.1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231 Tags
Red List (low evidence)	CHRND Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes congenital myopathy MONDO:0019952 Tags
Red List (low evidence)	COL4A1 Rhabdomyolysis and Metabolic Myopathy v1.20	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert list Phenotypes Recurrent rhabdomyolysis infections hypertrophic cardiomyopathy. Tags
Red List (low evidence)	COL4A2 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Red Expert list Phenotypes Brain small vessel disease 2 614483 Tags
Red List (low evidence)	EXOSC3 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes congenital myopathy MONDO:0019952 Tags
Red List (low evidence)	FKTN Rhabdomyolysis and Metabolic Myopathy v1.20	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800 Fukuyama congenital muscular dystrophy Tags
Red List (low evidence)	FOXP3 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes congenital myopathy MONDO:0019952 Tags
Red List (low evidence)	IDUA Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes congenital myopathy MONDO:0019952 Tags
Red List (low evidence)	KCNE3 Skeletal Muscle Channelopathies v1.1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Periodic paralysis Tags
Red List (low evidence)	KCNJ11 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820 Tags
Red List (low evidence)	KCNJ18 Skeletal Muscle Channelopathies v1.1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert Review Phenotypes Hypokalemic periodic paralysis {Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239 Tags
Red List (low evidence)	KCNJ5 Skeletal Muscle Channelopathies v1.1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Andersen-Tawil Syndrome periodic muscle paralysis Tags
Red List (low evidence)	MMS19 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodegenerative disease, MONDO:0005559, MMS19-related Tags
Red List (low evidence)	MYBPC3 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert Review Amber Expert list Phenotypes Cardiomyopathy with myopathy Tags
Red List (low evidence)	MYH1 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Phenotypes rhabdomyolysis, MONDO:0005290 Tags
Red List (low evidence)	MYH3 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes paresthesia rhabdomyolysis Tags
Red List (low evidence)	OPA1 Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert list Phenotypes congenital myopathy MONDO:0019952 Tags
Red List (low evidence)	PHKB Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Tags
Red List (low evidence)	SOX8 Muscular dystrophy and myopathy_Paediatric v1.85	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), SOX8-related Tags
Red List (low evidence)	TCAP Muscular dystrophy and myopathy_Paediatric v1.85	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954) Tags
Red List (low evidence)	TRAPPC2L Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Phenotypes Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Tags founder
Red List (low evidence)	TSEN54 Rhabdomyolysis and Metabolic Myopathy v1.20	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes ?Pontocerebellar hypoplasia type 5 610204 Pontocerebellar hypoplasia type 4 225753 Pontocerebellar hypoplasia type 2A 277470 Tags
Red List (low evidence)	TTN Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert Review Expert list Phenotypes Congenital titinopathy exercise intolerance Tags
Red List (low evidence)	TYMP Rhabdomyolysis and Metabolic Myopathy v1.20	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Tags

Myopathy Superpanel (Version 4.165)

369 Entities

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