PanelApp (stage)
  1. Panels
  2. Myopathy Superpanel
Description
Inherited myopathies superpanel.

338 Entities

338 reviewed, 267 green

List Entity Reviews Mode of inheritance Details
338 Entitiess
Green Green List (high evidence)
AARS2
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 Green List (high evidence)
ABHD5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dorfman-Chanarin disease MONDO:0010155
Tags
Green Green List (high evidence)
ACAD9
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 Green List (high evidence)
ACADM
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 Green List (high evidence)
ACADVL
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 Green List (high evidence)
ACTA1
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 Green List (high evidence)
ACTA1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, scapulohumeroperoneal 616852
Tags
Green Green List (high evidence)
ACTN2
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 Green List (high evidence)
ACTN2
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 Green List (high evidence)
ADSSL1
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 Green List (high evidence)
ADSSL1
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 Green List (high evidence)
AGK
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 Green List (high evidence)
AGL
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 Green List (high evidence)
AHCY
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 Green List (high evidence)
AIFM1
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 Green List (high evidence)
ALDOA
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 Green List (high evidence)
ANO5
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 Green List (high evidence)
ANO5
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 Green List (high evidence)
ASCC1
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 Green List (high evidence)
ASCC3
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 Green List (high evidence)
ATP2A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Brody myopathy 601003
Tags
Green Green List (high evidence)
ATP2A1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Brody myopathy, MIM# 601003
Tags
Green Green List (high evidence)
ATP6V1A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IID MIM#617403
Tags
Green Green List (high evidence)
B3GALNT2
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 Green List (high evidence)
B4GAT1
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 Green List (high evidence)
BAG3
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, myofibrillar, 6 612954
Tags
Green Green List (high evidence)
BICD2
2 reviews
2 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 Green List (high evidence)
BIN1
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 Green List (high evidence)
BVES
2 reviews
2 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 Green List (high evidence)
C1QBP
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 Green List (high evidence)
CACNA1S
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 Green List (high evidence)
CACNA1S
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 Green List (high evidence)
CACNA1S
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 Green List (high evidence)
CACNA1S
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 Green List (high evidence)
CAPN3
3 reviews
3 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 Green List (high evidence)
CASQ1
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 Green List (high evidence)
CASQ1
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 Green List (high evidence)
CAV3
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 Green List (high evidence)
CAV3
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 Green List (high evidence)
CAVIN1
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 Green List (high evidence)
CFL2
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 Green List (high evidence)
CHCHD10
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 Green List (high evidence)
CHKB
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 Green List (high evidence)
CHST14
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 Green List (high evidence)
CIAO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodegenerative disease, MONDO:0005559, CIAO1-related
Tags
Green Green List (high evidence)
CLCN1
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 Green List (high evidence)
COL12A1
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 Green List (high evidence)
COL6A1
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 Green List (high evidence)
COL6A1
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 Green List (high evidence)
COL6A2
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
COL6A2
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 Green List (high evidence)
COL6A3
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 Green List (high evidence)
COL6A3
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
COQ8A
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 Green List (high evidence)
CPT2
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 Green List (high evidence)
DAG1
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 Green List (high evidence)
DAG1
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 Green List (high evidence)
DES
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 Green List (high evidence)
DGUOK
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 Green List (high evidence)
DHX16
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 Green List (high evidence)
DM1
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 1 MIM#160900
Tags
Green Green List (high evidence)
DMD
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 Green List (high evidence)
DMD
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 Green List (high evidence)
DMD
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 Green List (high evidence)
DNA2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Tags
Green Green List (high evidence)
DNAJB4
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 Green List (high evidence)
DNAJB4
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 Green List (high evidence)
DNAJB6
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 Green List (high evidence)
DNAJB6
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
DNM2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • autosomal dominant centronuclear myopathy MONDO:0008048
Tags
Green Green List (high evidence)
DNM2
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 Green List (high evidence)
DOK7
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 Green List (high evidence)
DOLK
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 Green List (high evidence)
DPM1
2 reviews
1 green 		Unknown
Sources
  • Expert Review
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
DPM3
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 Green List (high evidence)
DPM3
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 Green List (high evidence)
DYNC1H1
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 Green List (high evidence)
DYSF
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 Green List (high evidence)
DYSF
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
DYSF
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 Green List (high evidence)
EMD
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 Green List (high evidence)
EMD
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 Green List (high evidence)
ENO3
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 Green List (high evidence)
EPG5
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 Green List (high evidence)
ETFA
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 Green List (high evidence)
ETFDH
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 Green List (high evidence)
FAM111B
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 Green List (high evidence)
FASTKD2
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 Green List (high evidence)
FDX2
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 Green List (high evidence)
FHL1
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 Green List (high evidence)
FILIP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775
Tags
Green Green List (high evidence)
FKBP14
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 Green List (high evidence)
FKRP
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 Green List (high evidence)
FKRP
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
FKRP
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 Green List (high evidence)
FKTN
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 Green List (high evidence)
FKTN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy MONDO:0018276
Tags
Green Green List (high evidence)
FLAD1
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 Green List (high evidence)
FLNC
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 Green List (high evidence)
FXR1
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 Green List (high evidence)
GAA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Glycogen storage disease II (MIM#232300)
Tags
Green Green List (high evidence)
GAA
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Glycogen storage disease II 232300
Tags
Green Green List (high evidence)
GBE1
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 Green List (high evidence)
GFER
2 reviews
2 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 Green List (high evidence)
GFPT1
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 Green List (high evidence)
GGPS1
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 Green List (high evidence)
GMPPB
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 (limb-girdle), type C, 14 615352
Tags
Green Green List (high evidence)
GMPPB
1 review
1 green 		Unknown
Sources
  • Expert Review
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
GMPPB
2 reviews
2 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 Green List (high evidence)
GNE
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 Green List (high evidence)
GOLGA2
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 Green List (high evidence)
GOSR2
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 Green List (high evidence)
GYG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polyglucosan body myopathy 2, MIM# 616199
  • Glycogen storage disease XV , MIM# 613507
Tags
Green Green List (high evidence)
GYG1
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 Green List (high evidence)
GYS1
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 Green List (high evidence)
HACD1
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 Green List (high evidence)
HADHA
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 Green List (high evidence)
HADHB
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 Green List (high evidence)
HMBS
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 Green List (high evidence)
HMGCR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related
Tags
Green Green List (high evidence)
HNRNPA1
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 Green List (high evidence)
HNRNPA2B1
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 Green List (high evidence)
HNRNPDL
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 Green List (high evidence)
HSPB8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773
Tags
Green Green List (high evidence)
INPP5K
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
ISCU
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 Green List (high evidence)
ISPD
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 Green List (high evidence)
ISPD
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 Green List (high evidence)
ITGA7
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 Green List (high evidence)
JAG2
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 Green List (high evidence)
KBTBD13
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 Green List (high evidence)
KCNA1
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 Green List (high evidence)
KCNJ2
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 Green List (high evidence)
KLHL40
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 Green List (high evidence)
KLHL41
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 Green List (high evidence)
KY
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar, 7 (MIM#617114)
Tags
Green Green List (high evidence)
LAMA2
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 Green List (high evidence)
LAMA2
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 Green List (high evidence)
LAMP2
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 Green List (high evidence)
LARGE1
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
LDB3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • myofibrillar myopathy 4 MONDO:0012277
Tags
Green Green List (high evidence)
LDHA
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 Green List (high evidence)
LMNA
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
LMNA
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 Green List (high evidence)
LMOD3
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 Green List (high evidence)
LPIN1
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 Green List (high evidence)
MAN2B1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • Alpha-mannosidosis MONDO:0009561
Tags
Green Green List (high evidence)
MAP3K20
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 Green List (high evidence)
MATR3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • distal myopathy with vocal cord weakness MONDO:0018951
Tags
Green Green List (high evidence)
MB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Myopathy, sarcoplasmic body MIM#620286
Tags
Green Green List (high evidence)
MEGF10
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 Green List (high evidence)
MGME1
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 Green List (high evidence)
MICU1
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 Green List (high evidence)
MLIP
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 Green List (high evidence)
MPDU1
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 Green List (high evidence)
MRUPAV
STR
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 Green List (high evidence)
MSTO1
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 Green List (high evidence)
MTM1
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 Green List (high evidence)
MYBPC1
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 Green List (high evidence)
MYH2
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 Green List (high evidence)
MYH7
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 Green List (high evidence)
MYL2
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 Green List (high evidence)
MYMK
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 Green List (high evidence)
MYO18B
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 Green List (high evidence)
MYOD1
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 Green List (high evidence)
MYOT
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, myofibrillar, 3 (MIM#609200)
Tags
Green Green List (high evidence)
MYPN
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 Green List (high evidence)
NEB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • distal myopathy MONDO:0018949
Tags
Green Green List (high evidence)
NEB
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 Green List (high evidence)
NIID
STR
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 Green List (high evidence)
OBSCN
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Rhabdomyolysis, MONDO:0005290, OBSCN-related
Tags
Green Green List (high evidence)
OPA1
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 Green List (high evidence)
OPDM1
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oculopharyngodistal myopathy 1 MIM#164310
Tags
Green Green List (high evidence)
OPDM2
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oculopharyngodistal myopathy 2 MIM#618940
Tags
Green Green List (high evidence)
ORAI1
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 Green List (high evidence)
PABPN1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • oculopharyngeal muscular dystrophy MONDO:0008116
Tags
Green Green List (high evidence)
PAX7
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 Green List (high evidence)
PFKM
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 Green List (high evidence)
PGAM2
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 Green List (high evidence)
PGK1
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 Green List (high evidence)
PGM1
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 Green List (high evidence)
PHKA1
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 Green List (high evidence)
PLEC
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 Green List (high evidence)
PLEC
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 Green List (high evidence)
PNPLA2
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 Green List (high evidence)
PNPLA2
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 Green List (high evidence)
POGLUT1
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 Green List (high evidence)
POLG
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 Green List (high evidence)
POLG2
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 Green List (high evidence)
POMGNT1
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
POMGNT1
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 Green List (high evidence)
POMGNT2
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 Green List (high evidence)
POMGNT2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
POMK
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 Green List (high evidence)
POMT1
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 Green List (high evidence)
POMT1
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
POMT2
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 Green List (high evidence)
POMT2
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
POPDC3
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 Green List (high evidence)
PRKAG2
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 Green List (high evidence)
PUS1
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 Green List (high evidence)
PYGM
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 Green List (high evidence)
PYROXD1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myofibrillar myopathy 8 MONDO:0014993
Tags
Green Green List (high evidence)
PYROXD1
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 Green List (high evidence)
RBCK1
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 Green List (high evidence)
RMND1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review
Phenotypes
  • Combined oxidative phosphorylation defect type 11 MONDO:0013969
Tags
Green Green List (high evidence)
RRM2B
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 Green List (high evidence)
RYR1
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 Green List (high evidence)
RYR1
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 Green List (high evidence)
RYR1
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 Green List (high evidence)
RYR1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • calf predominant distal myopathy
  • distal myopathy MONDO:0018949
Tags
Green Green List (high evidence)
RYR1
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 Green List (high evidence)
SCN4A
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 Green List (high evidence)
SCN4A
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 Green List (high evidence)
SCO2
1 review
1 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 Green List (high evidence)
SELENON
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 Green List (high evidence)
SGCA
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 Green List (high evidence)
SGCA
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 Green List (high evidence)
SGCB
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 Green List (high evidence)
SGCD
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 Green List (high evidence)
SGCG
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 Green List (high evidence)
SIL1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Marinesco-Sjogren syndrome (MIM#248800)
Tags
Green Green List (high evidence)
SIL1
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 Green List (high evidence)
SLC22A5
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 Green List (high evidence)
SLC25A20
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 Green List (high evidence)
SLC25A32
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Exercise intolerance, riboflavin-responsive MONDO:0014795
Tags
Green Green List (high evidence)
SLC25A4
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 Green List (high evidence)
SLC4A10
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 Green List (high evidence)
SMCHD1
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 Green List (high evidence)
SMPX
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 Green List (high evidence)
SNUPN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • autosomal recessive limb-girdle muscular dystrophy MONDO:0015152, SNUPN-related
Tags
Green Green List (high evidence)
SNUPN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • autosomal recessive limb-girdle muscular dystrophy MONDO:0015152
Tags
Green Green List (high evidence)
SPEG
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Centronuclear myopathy 5, MIM# 615959
Tags
Green Green List (high evidence)
SRPK3
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 Green List (high evidence)
STAC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, congenital, Baily-Bloch MIM#255995
Tags
Green Green List (high evidence)
STAC3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Congenital myopathy 13 (MIM#255995)
Tags
Green Green List (high evidence)
STIM1
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 Green List (high evidence)
SUCLA2
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 Green List (high evidence)
SUCLG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review
Phenotypes
  • mitochondrial DNA depletion syndrome 9 MONDO:0009504
Tags
Green Green List (high evidence)
SYNE1
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 Green List (high evidence)
SYNE1
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 Green List (high evidence)
TAMM41
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 Green List (high evidence)
TANGO2
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 Green List (high evidence)
TAZ
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 Green List (high evidence)
TCAP
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 Green List (high evidence)
TK2
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 Green List (high evidence)
TMEM126B
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 Green List (high evidence)
TMEM5
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 Green List (high evidence)
TNNT1
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 Green List (high evidence)
TNNT3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Expert Review Green
Phenotypes
  • Nemaline myopathy MONDO:0018958
Tags
Green Green List (high evidence)
TNPO3
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 Green List (high evidence)
TOR1AIP1
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 Green List (high evidence)
TPM2
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 Green List (high evidence)
TPM3
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 Green List (high evidence)
TRAPPC11
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 Green List (high evidence)
TRAPPC11
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 Green List (high evidence)
TRDN
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 Green List (high evidence)
TRIM32
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 Green List (high evidence)
TRIP4
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 Green List (high evidence)
TSFM
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 Green List (high evidence)
TTN
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 Green List (high evidence)
TWNK
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 Green List (high evidence)
UNC45B
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 Green List (high evidence)
VCP
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 Green List (high evidence)
VMA21
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 Green List (high evidence)
VPS13A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • chorea-acanthocytosis MONDO:0008695
Tags
Green Green List (high evidence)
YARS2
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 Amber List (moderate evidence)
ACADVL
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 Amber List (moderate evidence)
ANXA11
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 Amber List (moderate evidence)
ASPH
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 Amber List (moderate evidence)
ASPH
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 Amber List (moderate evidence)
ATP2A1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Brody myopathy MIM#601003
Tags
Amber Amber List (moderate evidence)
B3GNT2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy
Tags
Amber Amber List (moderate evidence)
BET1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular dystrophy, congenital, with rapid progression, MIM# 254100
Tags
Amber Amber List (moderate evidence)
CAPN3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 1 253600
Tags
Amber Amber List (moderate evidence)
CCDC78
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 Amber List (moderate evidence)
CHKB
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 Amber List (moderate evidence)
CHKB
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • megaconial type congenital muscular dystrophy MONDO:0011246
  • CHKB-Related Muscular Dystrophy
Tags
Amber Amber List (moderate evidence)
CNTN1
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 Amber List (moderate evidence)
COL4A1
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 Amber List (moderate evidence)
COL9A2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Epiphyseal dysplasia, multiple, 2 MIM#600204
Tags
Amber Amber List (moderate evidence)
COL9A3
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 Amber List (moderate evidence)
COMP
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Epiphyseal dysplasia, multiple, 1 MIM#132400
Tags
Amber Amber List (moderate evidence)
CRYAB
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 Amber List (moderate evidence)
DNMT3B
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 Amber List (moderate evidence)
DPM2
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 Amber List (moderate evidence)
ETFB
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Glutaric acidemia IIB 231680
Tags
Amber Amber List (moderate evidence)
ETFDH
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
Phenotypes
  • Glutaric acidemia IIC 231680
Tags
Amber Amber List (moderate evidence)
FHL1
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 Review Amber
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, MIM# 300717
Tags
Amber Amber List (moderate evidence)
HRAS
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 Amber List (moderate evidence)
KLHL9
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • distal myopathy MONDO:0018949
Tags
Amber Amber List (moderate evidence)
LAMP2
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 Amber List (moderate evidence)
LPIN1
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 Amber List (moderate evidence)
LRIF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Facioscapulohumeral muscular dystrophy MONDO:0001347
Tags
Amber Amber List (moderate evidence)
MAMDC2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular Dystrophy MONDO:0020121, MAMDC2-related
Tags
Amber Amber List (moderate evidence)
MAMDC2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular Dystrophy MONDO:0020121, MAMDC2-related
Tags
Amber Amber List (moderate evidence)
MTMR14
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 Amber List (moderate evidence)
MYL1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • NHS GMS
Phenotypes
  • Congenital Myopathy 14 (MIM#618414)
Tags
Amber Amber List (moderate evidence)
MYMX
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Carey-Fineman-Ziter syndrome MONDO:0009700
Tags
Amber Amber List (moderate evidence)
PACSIN3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myopathy, MONDO:0005336, PACSIN3-related
Tags
Amber Amber List (moderate evidence)
PACSIN3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myopathy, MONDO:0005336, PACSIN3-related
Tags
Amber Amber List (moderate evidence)
PFKM
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Glycogen storage disease VII (MIM#232800)
Tags
Amber Amber List (moderate evidence)
POGLUT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Muscular dystrophy, MONDO:0020121, POGLUT1-related
Tags
Amber Amber List (moderate evidence)
POMK
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 Amber List (moderate evidence)
PYGM
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • McArdle disease (MIM#232600)
Tags
Amber Amber List (moderate evidence)
SQSTM1
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 Amber List (moderate evidence)
SVIL
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Expert Review Amber
  • Literature
Phenotypes
  • Myofibrillar myopathy 10 (MIM#619040)
Tags
Amber Amber List (moderate evidence)
TIA1
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • distal myopathy, Welander type MONDO:0011466
Tags
Amber Amber List (moderate evidence)
TMEM43
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 Amber List (moderate evidence)
TNNC2
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 Amber List (moderate evidence)
TNNT1
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 Amber List (moderate evidence)
TRPV1
3 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Exertional heat stroke
  • rhabdomyolysis
Tags
Amber Amber List (moderate evidence)
TRPV1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Malignant hyperthermia susceptibility
Tags
Amber Amber List (moderate evidence)
TUBA4A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital myopathy MONDO:0019952
Tags
Red Red List (low evidence)
AMACR
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 Red List (low evidence)
AMPD1
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 Red List (low evidence)
ATP1A2
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 Red List (low evidence)
CACNB1
2 reviews
1 red 		Unknown
Sources
  • Other
  • Expert Review Red
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Malignant hyperthermia susceptibility
Tags
Red Red List (low evidence)
CACNB1
2 reviews
1 red 		Not set
Sources
  • Expert Review Red
  • Expert list
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • ?Malignant hyperthermia susceptibility
Tags
Red Red List (low evidence)
CASQ1
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 Red List (low evidence)
COL4A1
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 Red List (low evidence)
COL4A2
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 Red List (low evidence)
FKTN
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 Red List (low evidence)
KCNE3
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 Red List (low evidence)
KCNJ11
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820
Tags
Red Red List (low evidence)
KCNJ18
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 Red List (low evidence)
KCNJ5
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 Red List (low evidence)
MMS19
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodegenerative disease, MONDO:0005559, MMS19-related
Tags
Red Red List (low evidence)
MYBPC3
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 Red List (low evidence)
MYH1
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • rhabdomyolysis, MONDO:0005290
Tags
Red Red List (low evidence)
MYH3
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 Red List (low evidence)
PHKB
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 Red List (low evidence)
SOX8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), SOX8-related
Tags
Red Red List (low evidence)
TCAP
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 Red List (low evidence)
TRAPPC2L
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 Red List (low evidence)
TSEN54
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 Red List (low evidence)
TTN
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 Red List (low evidence)
TYMP
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

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