Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Rhabdomyolysis and Metabolic Myopathy v1.20 | GUK1 | Zornitza Stark Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.19 | GUK1 | Zornitza Stark reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.19 | GUK1 | Bryony Thompson Marked gene: GUK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.19 | GUK1 | Bryony Thompson Gene: guk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.19 | GUK1 | Bryony Thompson Classified gene: GUK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.19 | GUK1 | Bryony Thompson Gene: guk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.18 | GUK1 |
Bryony Thompson gene: GUK1 was added gene: GUK1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUK1 were set to 39230499 Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related Review for gene: GUK1 was set to GREEN Added comment: 4 adult cases from 3 unrelated families with biallelic variants leading to GUK1 deficiency. Cases presented with ptosis, ophthalmoparesis, myopathic proximal limb weakness, variable hepatopathy, and altered T-lymphocyte profiles. Initial manifestations in childhood or adolescence and developed ptosis and skeletal myopathy. mtDNA depletion/deletions are present in muscle biopsies of reduced activities of mitochondrial respiratory chain enzymes in all 4 cases. The condition presents with a mitochondrial myopathy. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.17 | DTNA | Bryony Thompson Classified gene: DTNA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.17 | DTNA | Bryony Thompson Added comment: Comment on list classification: Exercise intolerance is a prominent feature of the myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.17 | DTNA | Bryony Thompson Gene: dtna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.16 | DTNA | Zornitza Stark reviewed gene: DTNA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, MONDO:0020121, DTNA-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.16 | DTNA | Zornitza Stark Marked gene: DTNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.16 | DTNA | Zornitza Stark Gene: dtna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.16 | DTNA | Zornitza Stark Phenotypes for gene: DTNA were changed from Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis MONDO:0859322 to Muscular dystrophy, MONDO:0020121, DTNA-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.15 | DTNA | Chirag Patel Classified gene: DTNA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.15 | DTNA | Chirag Patel Gene: dtna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.14 | DTNA |
Chirag Patel gene: DTNA was added gene: DTNA was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DTNA were set to PMID: 36799992 Phenotypes for gene: DTNA were set to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis MONDO:0859322 Mode of pathogenicity for gene: DTNA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: DTNA was set to GREEN Added comment: 12 individuals from 4 unrelated families with 2 different monoallelic DTNA variants in exon 18 and affecting the coiled-coil domain of α-dystrobrevin (DTNA). DTNA encodes α-dystrobrevin, a component of the macromolecular dystrophin-glycoprotein complex (DGC) that binds to dystrophin/utrophin and α-syntrophin. Mice lacking α-dystrobrevin have a muscular dystrophy phenotype. Clinical features with onset between 1st and 4th decades included: myalgia, muscle cramps associated with physical activity, exercise intolerance, and increased serum CK (11/12). Most patients have mild symptoms, only 3 had mild proximal muscle weakness of the lower limbs, and 1 had episode of rhabdomyolysis @20yrs. Muscle biopsies in 8 individuals showed mild myopathic and/or dystrophic features. The 2 variants (p.Glu529Lys and p.Gln523_Glu529del) were found by targeted exome sequencing and confirmed by Sanger sequencing. They segregated with the disorder in the families and were absent in gnomAD. Immunofluorescent analysis of patient muscle samples showed decreased DTNA immunoreactivity at the sarcolemma, as well as variably reduced immunoreactivity of several other dystrophin-glycoprotein complex (DGC) proteins, suggesting that the DTNA variants resulted in overall destabilization of the DG complex within skeletal muscle. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.13 | SLC52A1 | Bryony Thompson Marked gene: SLC52A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.13 | SLC52A1 | Bryony Thompson Gene: slc52a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.13 | SLC52A1 | Bryony Thompson Classified gene: SLC52A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.13 | SLC52A1 | Bryony Thompson Added comment: Comment on list classification: MADD phenotype can mimic mitochondrial myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.13 | SLC52A1 | Bryony Thompson Gene: slc52a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.11 | SLC52A1 |
Bryony Thompson gene: SLC52A1 was added gene: SLC52A1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC52A1 were set to 37510312; 29122468; 21089064 Phenotypes for gene: SLC52A1 were set to Maternal riboflavin deficiency MONDO:0014013 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.10 | SLC52A3 | Bryony Thompson Marked gene: SLC52A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.10 | SLC52A3 | Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.10 | SLC52A3 | Bryony Thompson Classified gene: SLC52A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.10 | SLC52A3 | Bryony Thompson Gene: slc52a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.9 | SLC52A3 |
Bryony Thompson gene: SLC52A3 was added gene: SLC52A3 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A3 were set to 29193829; 31868069; 29053833; 26072523 Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Review for gene: SLC52A3 was set to GREEN gene: SLC52A3 was marked as current diagnostic Added comment: Phenotype can resemble Multiple Acyl-CoA Dehydrogenase Deficiency and can mimic a mitochondrial myopathy. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.8 | SLC52A2 | Bryony Thompson Marked gene: SLC52A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.8 | SLC52A2 | Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.8 | SLC52A2 | Bryony Thompson Classified gene: SLC52A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.8 | SLC52A2 | Bryony Thompson Gene: slc52a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.7 | SLC52A2 |
Bryony Thompson gene: SLC52A2 was added gene: SLC52A2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to 29193829; 31868069; 29053833; 26072523 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-van Laere syndrome 2 MONDO:0013867 Review for gene: SLC52A2 was set to GREEN gene: SLC52A2 was marked as current diagnostic Added comment: Phenotype can resemble Multiple Acyl-CoA Dehydrogenase Deficiency and can mimic a mitochondrial myopathy. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.6 | SLC25A32 | Bryony Thompson Marked gene: SLC25A32 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.6 | SLC25A32 | Bryony Thompson Gene: slc25a32 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.6 | SLC25A32 | Bryony Thompson Classified gene: SLC25A32 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.6 | SLC25A32 | Bryony Thompson Gene: slc25a32 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.5 | SLC25A32 |
Bryony Thompson gene: SLC25A32 was added gene: SLC25A32 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A32 were set to 26933868; 35727412; 34764427; 28443623 Phenotypes for gene: SLC25A32 were set to Exercise intolerance, riboflavin-responsive MONDO:0014795 Review for gene: SLC25A32 was set to GREEN Added comment: 5 cases with MADD from 4 unrelated families (4 homozygotes & 1 chet) and a supporting mouse model. At least 2 cases and the mouse model had exercise intolerance. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.3 | PACSIN3 | Zornitza Stark Marked gene: PACSIN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.3 | PACSIN3 | Zornitza Stark Gene: pacsin3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.3 | PACSIN3 | Zornitza Stark Classified gene: PACSIN3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.3 | PACSIN3 | Zornitza Stark Gene: pacsin3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.2 | PACSIN3 |
Zornitza Stark gene: PACSIN3 was added gene: PACSIN3 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature Mode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PACSIN3 were set to 38637313 Phenotypes for gene: PACSIN3 were set to Myopathy, MONDO:0005336, PACSIN3-related Review for gene: PACSIN3 was set to AMBER Added comment: Two unrelated families with LoF variants, one homozygous. Muscle phenotype including raised CK. Supportive mouse model. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.1 | HMBS | Bryony Thompson Classified gene: HMBS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.1 | HMBS | Bryony Thompson Gene: hmbs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.0 | HMBS | Bryony Thompson reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 37113461, 25389600, 18647325, 36335232, 34187794, 30778035, 18816221, 15298749; Phenotypes: Porphyria, acute intermittent MIM#176000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.0 | HMBS | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v1.0 | Bryony Thompson promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.192 | TAMM41 | Bryony Thompson Marked gene: TAMM41 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.192 | TAMM41 | Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.192 | TAMM41 | Bryony Thompson Classified gene: TAMM41 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.192 | TAMM41 | Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.191 | TAMM41 |
Bryony Thompson gene: TAMM41 was added gene: TAMM41 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAMM41 were set to 35321494; 29253589 Phenotypes for gene: TAMM41 were set to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.190 | SUCLG1 | Bryony Thompson Marked gene: SUCLG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.190 | SUCLG1 | Bryony Thompson Gene: suclg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.190 | SUCLG1 | Bryony Thompson Classified gene: SUCLG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.190 | SUCLG1 | Bryony Thompson Gene: suclg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.189 | SUCLG1 |
Bryony Thompson gene: SUCLG1 was added gene: SUCLG1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLG1 were set to 30560055; 29217198 Phenotypes for gene: SUCLG1 were set to mitochondrial DNA depletion syndrome 9 MONDO:0009504 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.188 | SCO2 | Bryony Thompson Marked gene: SCO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.188 | SCO2 | Bryony Thompson Gene: sco2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.188 | SCO2 | Bryony Thompson Classified gene: SCO2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.188 | SCO2 | Bryony Thompson Gene: sco2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.187 | SCO2 |
Bryony Thompson gene: SCO2 was added gene: SCO2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 23719228 Phenotypes for gene: SCO2 were set to cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451 gene: SCO2 was marked as current diagnostic |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.186 | RMND1 | Bryony Thompson Classified gene: RMND1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.186 | RMND1 | Bryony Thompson Gene: rmnd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.185 | RMND1 |
Bryony Thompson gene: RMND1 was added gene: RMND1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMND1 were set to 23022099; 25604853; 27843092 Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation defect type 11 MONDO:0013969 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.184 | TSFM | Bryony Thompson Classified gene: TSFM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.184 | TSFM | Bryony Thompson Gene: tsfm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.183 | TSFM | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.183 | TSFM | Bryony Thompson commented on gene: TSFM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.183 | TSFM | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.183 | MAN2B1 | Bryony Thompson Marked gene: MAN2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.183 | MAN2B1 | Bryony Thompson Gene: man2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.183 | MAN2B1 | Bryony Thompson Classified gene: MAN2B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.183 | MAN2B1 | Bryony Thompson Gene: man2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.182 | MAN2B1 |
Bryony Thompson gene: MAN2B1 was added gene: MAN2B1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to 20301570 Phenotypes for gene: MAN2B1 were set to Alpha-mannosidosis MONDO:0009561 Review for gene: MAN2B1 was set to GREEN gene: MAN2B1 was marked as current diagnostic Added comment: Metabolic myopathy is a well-established feature of the condition. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.181 | CHKB | Bryony Thompson Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type MIM#602541 to megaconial type congenital muscular dystrophy MONDO:0011246; recurrent rhabdomyolysis; CHKB-Related Muscular Dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.180 | CHKB | Bryony Thompson Publications for gene: CHKB were set to 26782016 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.179 | CHKB | Bryony Thompson Classified gene: CHKB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.179 | CHKB | Bryony Thompson Gene: chkb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.178 | CHKB | Bryony Thompson reviewed gene: CHKB: Rating: AMBER; Mode of pathogenicity: None; Publications: 37011121; Phenotypes: megaconial type congenital muscular dystrophy MONDO:0011246, recurrent rhabdomyolysis, CHKB-Related Muscular Dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.178 | CHKB | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.178 | AHCY | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.178 | AHCY | Bryony Thompson Publications for gene: AHCY were set to 28779239 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.177 | AHCY | Bryony Thompson Classified gene: AHCY as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.177 | AHCY | Bryony Thompson Gene: ahcy has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.176 | AHCY | Bryony Thompson commented on gene: AHCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.176 | AHCY | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.176 | GFER | Bryony Thompson Marked gene: GFER as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.176 | GFER | Bryony Thompson Gene: gfer has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.176 | GFER | Bryony Thompson Classified gene: GFER as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.176 | GFER | Bryony Thompson Gene: gfer has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.175 | FASTKD2 | Bryony Thompson Marked gene: FASTKD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.175 | FASTKD2 | Bryony Thompson Gene: fastkd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.175 | FASTKD2 | Bryony Thompson Classified gene: FASTKD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.175 | FASTKD2 | Bryony Thompson Gene: fastkd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.174 | AIFM1 | Bryony Thompson Marked gene: AIFM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.174 | AIFM1 | Bryony Thompson Gene: aifm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.174 | AIFM1 | Bryony Thompson Classified gene: AIFM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.174 | AIFM1 | Bryony Thompson Gene: aifm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.173 | AIFM1 | Bryony Thompson Mode of inheritance for gene: AIFM1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.172 | AIFM1 | Sangavi Sivagnanasundram edited their review of gene: AIFM1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.172 | AGK | Bryony Thompson Marked gene: AGK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.172 | AGK | Bryony Thompson Gene: agk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.172 | AGK | Bryony Thompson Classified gene: AGK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.172 | AGK | Bryony Thompson Gene: agk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.171 | AARS2 | Bryony Thompson Marked gene: AARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.171 | AARS2 | Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.171 | AARS2 | Bryony Thompson Classified gene: AARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.171 | AARS2 | Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.170 | ABHD5 | Bryony Thompson Marked gene: ABHD5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.170 | ABHD5 | Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.170 | ABHD5 | Bryony Thompson Classified gene: ABHD5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.170 | ABHD5 | Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.169 | ABHD5 |
Bryony Thompson gene: ABHD5 was added gene: ABHD5 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 31883530 Phenotypes for gene: ABHD5 were set to Dorfman-Chanarin disease MONDO:0010155 Review for gene: ABHD5 was set to GREEN gene: ABHD5 was marked as current diagnostic Added comment: A disorder of glycerolipid metabolism. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.168 | GFER |
Sangavi Sivagnanasundram gene: GFER was added gene: GFER was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFER were set to 28155230; 19409522; 26018198 Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (MIM#613076) Review for gene: GFER was set to GREEN Added comment: Onset - at birth and/or during infancy 8 individuals from 4 unrelated families with clinical symptoms of hypotonia and elevated plasma lactate levels. Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.168 | FASTKD2 |
Sangavi Sivagnanasundram gene: FASTKD2 was added gene: FASTKD2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASTKD2 were set to 31944455; 18771761 Phenotypes for gene: FASTKD2 were set to Combined oxidative phosphorylation deficiency 44 (MIM#618855) Review for gene: FASTKD2 was set to GREEN Added comment: - Onset in infancy or early childhood - Features typically include global developmental delay, hypotonia, and abnormal movements. 5 individuals from 4 unrelated families with features of with hypotonia, increased serum lactate and phenotypes relating to hypertrophic cardiomyopathy PMID: 31944455 Functional study using HEK293 cells showed the depletion in FASTKD2 protein resulting in defective mitochondrial RNA translation. Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.168 | AIFM1 |
Sangavi Sivagnanasundram gene: AIFM1 was added gene: AIFM1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: AIFM1 were set to 20362274; 22019070; 26173962 Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6 (COXPD6) (MIM#300816); Encephalamyopathy, Mitochondrial, X-Linked Review for gene: AIFM1 was set to GREEN Added comment: - Onset is in utero or in infancy - Affected individuals typically present with hypotonia, impaired psychomotoro development with decreased enzymatic activity, specifically in skeletal muscle or fibroblasts 6 individuals from 3 unrelated families presented with hypotonia with muscle weakness and increased plasma lactate and a hemizygous mutation in AIFM1 causative of Combined oxidative phosphorylation deficiency 6 (COXPD6). PMID: 20362274 2 individuals (first cousins) from one family with Hypotonia and hypo-areflexia and increased lactate in plasma and both individuals carried a hemizygous deletion In vitro studies showed that in the presence of the deletion, the inner mitochondrial membrane is destabilised causing damage to the respiratory chain structure and activities. PMID: 22019070 2 brothers (one deceased) with hyptonia and symptoms of hypertrophic cardiomyopathy (HCM) and complete cytochrome C oxidase deficiency on a histochemistry staining. PMID: 26173962 2 individuals from one family (cousins) with hemizyggous mutation in AIFM1 Both presented with hypotonia with muscle weakness and increased plasma lactate Segregation study showed unaffected mother was a carrier for the hemizygous mutation Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.168 | AGK |
Sangavi Sivagnanasundram gene: AGK was added gene: AGK was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGK were set to 22284826 Phenotypes for gene: AGK were set to Sengers Syndrome (MIM#212350; MONDO:0008922) Review for gene: AGK was set to GREEN Added comment: Mitochondrial disorder with typical features such as hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis PMID: 22284826 Predicted LoF variants in 10 individuals from unrelated families > 5 individuals with confirmed combined respiratory-chain-complex deficiency in muscle tissue as well as lactic acidosis. Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.168 | AARS2 |
Sangavi Sivagnanasundram gene: AARS2 was added gene: AARS2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 21549344; 25058219 Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8 MIM#614096 Review for gene: AARS2 was set to GREEN Added comment: PMID: 21549344 2 Individuals with infantile mitochondrial HCM and lactic acidosis as well as a severe COX deficiency PMID: 25058219 5 individuals from unrelated families with a mutation in AARS and phenotypic features of cardiomyopathy but only 3 individuals presented with lactic acidosis. Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.167 | DGUOK | Bryony Thompson Classified gene: DGUOK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.167 | DGUOK | Bryony Thompson Gene: dguok has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.166 | DGUOK | Bryony Thompson Phenotypes for gene: DGUOK were changed from Rhabdomyolisis; lower limb weakness to 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.165 | DGUOK | Bryony Thompson Publications for gene: DGUOK were set to 23043144 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.164 | SUCLA2 | Bryony Thompson Publications for gene: SUCLA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.163 | SUCLA2 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.163 | SUCLA2 | Bryony Thompson commented on gene: SUCLA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.163 | SUCLA2 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.163 | SUCLA2 | Bryony Thompson Classified gene: SUCLA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.163 | SUCLA2 | Bryony Thompson Gene: sucla2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.162 | SUCLA2 | Bryony Thompson Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.162 | SLC25A20 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.162 | SLC25A20 | Bryony Thompson commented on gene: SLC25A20 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.162 | SLC25A20 | Bryony Thompson Classified gene: SLC25A20 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.162 | SLC25A20 | Bryony Thompson Gene: slc25a20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.161 | SLC25A20 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.161 | SLC25A20 | Bryony Thompson Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.161 | PUS1 | Bryony Thompson Marked gene: PUS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.161 | PUS1 | Bryony Thompson Gene: pus1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.161 | PUS1 | Bryony Thompson Classified gene: PUS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.161 | PUS1 | Bryony Thompson Gene: pus1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.160 | OPA1 | Bryony Thompson Marked gene: OPA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.160 | OPA1 | Bryony Thompson Gene: opa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.160 | OPA1 | Bryony Thompson Classified gene: OPA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.160 | OPA1 | Bryony Thompson Gene: opa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.159 | MGME1 | Bryony Thompson Marked gene: MGME1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.159 | MGME1 | Bryony Thompson Gene: mgme1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.159 | MGME1 | Bryony Thompson Classified gene: MGME1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.159 | MGME1 | Bryony Thompson Gene: mgme1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.158 | FLAD1 | Bryony Thompson Marked gene: FLAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.158 | FLAD1 | Bryony Thompson Gene: flad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.158 | FLAD1 | Bryony Thompson Classified gene: FLAD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.158 | FLAD1 | Bryony Thompson Gene: flad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.157 | SLC22A5 | Bryony Thompson Marked gene: SLC22A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.157 | SLC22A5 | Bryony Thompson Gene: slc22a5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.157 | SLC22A5 | Bryony Thompson Publications for gene: SLC22A5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.156 | RYR1 | Bryony Thompson Marked gene: RYR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.156 | RYR1 | Bryony Thompson Gene: ryr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.156 | RYR1 | Bryony Thompson Publications for gene: RYR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.155 | RRM2B | Bryony Thompson Marked gene: RRM2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.155 | RRM2B | Bryony Thompson Gene: rrm2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.155 | RRM2B | Bryony Thompson Publications for gene: RRM2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.154 | RBCK1 | Bryony Thompson Marked gene: RBCK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.154 | RBCK1 | Bryony Thompson Gene: rbck1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.154 | RBCK1 | Bryony Thompson Publications for gene: RBCK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.153 | PYGM | Bryony Thompson Marked gene: PYGM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.153 | PYGM | Bryony Thompson Gene: pygm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.153 | PYGM | Bryony Thompson Publications for gene: PYGM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.152 | POLG2 | Bryony Thompson Marked gene: POLG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.152 | POLG2 | Bryony Thompson Gene: polg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.152 | POLG2 | Bryony Thompson Phenotypes for gene: POLG2 were changed from Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.151 | POLG2 | Bryony Thompson Publications for gene: POLG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.150 | POLG | Bryony Thompson Marked gene: POLG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.150 | POLG | Bryony Thompson Gene: polg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.150 | POLG | Bryony Thompson Publications for gene: POLG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.149 | PHKA1 | Bryony Thompson Marked gene: PHKA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.149 | PHKA1 | Bryony Thompson Gene: phka1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.149 | PHKA1 | Bryony Thompson Phenotypes for gene: PHKA1 were changed from Muscle glycogenosis 300559 to Muscle glycogenosis, MIM# 300559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.148 | PHKA1 | Bryony Thompson Publications for gene: PHKA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.147 | PGK1 | Bryony Thompson Marked gene: PGK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.147 | PGK1 | Bryony Thompson Gene: pgk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.147 | PGK1 | Bryony Thompson Publications for gene: PGK1 were set to 6933565; 1547346; 7577653; 9512313 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.146 | PGK1 | Bryony Thompson Marked gene: PGK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.146 | PGK1 | Bryony Thompson Gene: pgk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.146 | PGK1 | Bryony Thompson Publications for gene: PGK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.145 | PGAM2 | Bryony Thompson Marked gene: PGAM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.145 | PGAM2 | Bryony Thompson Gene: pgam2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.145 | PGAM2 | Bryony Thompson Phenotypes for gene: PGAM2 were changed from Glycogen storage disease X 261670 to Glycogen storage disease X, MIM# 261670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.144 | PGAM2 | Bryony Thompson Publications for gene: PGAM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.143 | GBE1 | Bryony Thompson Marked gene: GBE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.143 | GBE1 | Bryony Thompson Gene: gbe1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.143 | GBE1 | Bryony Thompson Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV 232500 to Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.142 | GBE1 | Bryony Thompson Publications for gene: GBE1 were set to 8613547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.141 | GBE1 | Bryony Thompson Publications for gene: GBE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.140 | GAA | Bryony Thompson Marked gene: GAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.140 | GAA | Bryony Thompson Gene: gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.140 | GAA | Bryony Thompson Phenotypes for gene: GAA were changed from Glycogen storage disease II 232300 to Glycogen storage disease II (MIM#232300) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.139 | GAA | Bryony Thompson Publications for gene: GAA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.138 | FKRP | Bryony Thompson Marked gene: FKRP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.138 | FKRP | Bryony Thompson Gene: fkrp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.138 | FKRP | Bryony Thompson Publications for gene: FKRP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.137 | DYSF | Bryony Thompson Marked gene: DYSF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.137 | DYSF | Bryony Thompson Gene: dysf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.137 | DYSF | Bryony Thompson Publications for gene: DYSF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.136 | PFKM | Bryony Thompson Marked gene: PFKM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.136 | PFKM | Bryony Thompson Gene: pfkm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.136 | PFKM | Bryony Thompson Phenotypes for gene: PFKM were changed from Glycogen storage disease VII 232800 to Glycogen storage disease VII, MIM# 232800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.135 | PFKM | Bryony Thompson Publications for gene: PFKM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.134 | LDHA | Bryony Thompson Marked gene: LDHA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.134 | LDHA | Bryony Thompson Gene: ldha has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.134 | LDHA | Bryony Thompson Phenotypes for gene: LDHA were changed from Glycogen storage disease XI 612933 to Glycogen storage disease XI, MIM# 612933 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.133 | LDHA | Bryony Thompson Publications for gene: LDHA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.132 | LAMP2 | Bryony Thompson Marked gene: LAMP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.132 | LAMP2 | Bryony Thompson Gene: lamp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.132 | LAMP2 | Bryony Thompson Phenotypes for gene: LAMP2 were changed from Danon disease 300257 to Danon disease, MIM# 300257; MONDO:0010281 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.131 | ISCU | Bryony Thompson Marked gene: ISCU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.131 | ISCU | Bryony Thompson Gene: iscu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.131 | ISCU | Bryony Thompson Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary 255125 to Myopathy with lactic acidosis, hereditary, MIM# 255125 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.130 | ISCU | Bryony Thompson Publications for gene: ISCU were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.129 | HADHB | Bryony Thompson Marked gene: HADHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.129 | HADHB | Bryony Thompson Gene: hadhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.129 | HADHB | Bryony Thompson Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency 609015 to Trifunctional protein deficiency MIM#609015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.128 | HADHB | Bryony Thompson Publications for gene: HADHB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.127 | HADHA | Bryony Thompson Marked gene: HADHA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.127 | HADHA | Bryony Thompson Gene: hadha has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.127 | HADHA | Bryony Thompson Phenotypes for gene: HADHA were changed from Trifunctional protein deficiency 609015 to LCHAD deficiency MIM#609016; Trifunctional protein deficiency MIM#609015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.126 | HADHA | Bryony Thompson Publications for gene: HADHA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.125 | TMEM126B | Bryony Thompson Marked gene: TMEM126B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.125 | TMEM126B | Bryony Thompson Gene: tmem126b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.125 | TMEM126B | Bryony Thompson Classified gene: TMEM126B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.125 | TMEM126B | Bryony Thompson Gene: tmem126b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.124 | DMD | Bryony Thompson Marked gene: DMD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.124 | DMD | Bryony Thompson Gene: dmd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.124 | DMD | Bryony Thompson Publications for gene: DMD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.123 | DMD | Bryony Thompson Classified gene: DMD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.123 | DMD | Bryony Thompson Added comment: Comment on list classification: The phenotype spectrum includes asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.123 | DMD | Bryony Thompson Gene: dmd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.122 | DMD | Bryony Thompson Mode of inheritance for gene: DMD was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.121 | CPT2 | Bryony Thompson Marked gene: CPT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.121 | CPT2 | Bryony Thompson Gene: cpt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.121 | CPT2 | Bryony Thompson edited their review of gene: CPT2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.121 | CAV3 | Bryony Thompson Marked gene: CAV3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.121 | CAV3 | Bryony Thompson Gene: cav3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.121 | ANO5 | Bryony Thompson Marked gene: ANO5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.121 | ANO5 | Bryony Thompson Gene: ano5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.121 | ANO5 | Bryony Thompson Publications for gene: ANO5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.120 | ANO5 | Bryony Thompson Classified gene: ANO5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.120 | ANO5 | Bryony Thompson Added comment: Comment on list classification: The phenotype can range from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.120 | ANO5 | Bryony Thompson Gene: ano5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.119 | CACNA1S | Bryony Thompson Marked gene: CACNA1S as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.119 | CACNA1S | Bryony Thompson Gene: cacna1s has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.119 | CACNA1S | Bryony Thompson Classified gene: CACNA1S as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.119 | CACNA1S | Bryony Thompson Added comment: Comment on list classification: Second most common cause of malignant hyperthermia susceptibility after RYR1, but it is still a rare cause. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.119 | CACNA1S | Bryony Thompson Gene: cacna1s has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.118 | CACNA1S | Bryony Thompson Mode of pathogenicity for gene: CACNA1S was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.117 | CACNA1S | Bryony Thompson Publications for gene: CACNA1S were set to 20301325 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.116 | CACNA1S | Bryony Thompson Publications for gene: CACNA1S were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.115 | AGL | Bryony Thompson Marked gene: AGL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.115 | AGL | Bryony Thompson Gene: agl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.115 | AGL | Bryony Thompson Publications for gene: AGL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.112 | TMEM126B |
Bryony Thompson gene: TMEM126B was added gene: TMEM126B was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126B were set to 27374774; 27374773 Phenotypes for gene: TMEM126B were set to mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032633 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.111 | PUS1 |
Bryony Thompson gene: PUS1 was added gene: PUS1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PUS1 were set to 25227147; 17056637; 15108122; 32287105; 31641589; 28832011 Phenotypes for gene: PUS1 were set to myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.110 | OPA1 |
Bryony Thompson gene: OPA1 was added gene: OPA1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OPA1 were set to 30165240; 20301426 Phenotypes for gene: OPA1 were set to optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.109 | MGME1 |
Bryony Thompson gene: MGME1 was added gene: MGME1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MGME1 were set to 23313956; 29572490; 28711739 Phenotypes for gene: MGME1 were set to mitochondrial DNA depletion syndrome 11 MONDO:0014039 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.108 | FLAD1 |
Bryony Thompson gene: FLAD1 was added gene: FLAD1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLAD1 were set to 34454814; 34718578; 31392824; 30982706; 30311138; 30427553; 28433476; 27259049; 25058219 Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.107 | ATP2A1 | Bryony Thompson Classified gene: ATP2A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.107 | ATP2A1 | Bryony Thompson Gene: atp2a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.106 | ATP2A1 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.106 | ATP2A1 | Bryony Thompson commented on gene: ATP2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.106 | ATP2A1 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.106 |
Bryony Thompson Panel name changed from Rhabdomyolysis to Rhabdomyolysis and Metabolic Myopathy HPO terms changed from Rhabdomyolysis, HP:0003201 to Rhabdomyolysis, HP:0003201;Exercise intolerance, HP:0003546;Metabolic myopathy, MONDO:0020123 List of related panels changed from Rhabdomyolysis; HP:0003201 to Rhabdomyolysis; HP:0003201;Exercise intolerance; HP:0003546;Metabolic myopathy; MONDO:0020123 |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.105 | PRKAG2 | Bryony Thompson Publications for gene: PRKAG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.104 | PRKAG2 | Bryony Thompson Classified gene: PRKAG2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.104 | PRKAG2 | Bryony Thompson Gene: prkag2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.103 | PRKAG2 | Bryony Thompson reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15766830, 31049239; Phenotypes: Cardiomyopathy, hypertrophic 6 MIM#600858, Glycogen storage disease of heart, lethal congenital MIM#261740, Wolff-Parkinson-White syndrome MIM#194200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.103 | PRKAG2 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.103 | DNA2 | Bryony Thompson Publications for gene: DNA2 were set to 31636600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.102 | DNA2 | Bryony Thompson Classified gene: DNA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.102 | DNA2 | Bryony Thompson Added comment: Comment on list classification: AD PEO phenotype includes mitochondrial myopathy, which can present with rhabdomyolysis and exercise intolerance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.102 | DNA2 | Bryony Thompson Gene: dna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.101 | DNA2 | Bryony Thompson commented on gene: DNA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.101 | DNA2 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.101 | CHCHD10 | Bryony Thompson Marked gene: CHCHD10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.101 | CHCHD10 | Bryony Thompson Gene: chchd10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.101 | CHCHD10 | Bryony Thompson Classified gene: CHCHD10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.101 | CHCHD10 | Bryony Thompson Gene: chchd10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.100 | CHCHD10 |
Bryony Thompson gene: CHCHD10 was added gene: CHCHD10 was added to Rhabdomyolysis. Sources: Literature Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD10 were set to 30874923; 29112723; 25193783; 24934289 Phenotypes for gene: CHCHD10 were set to autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Mode of pathogenicity for gene: CHCHD10 was set to Other Review for gene: CHCHD10 was set to GREEN gene: CHCHD10 was marked as current diagnostic Added comment: There are 2 families reported with mitochondrial myopathy phenotype and supporting functional assays and a knock-in mouse model 1 fam - PMID: 24934289 - c.176C>T; p.Ser59Leu segregates with mitochondrial myopathy (confirmed by muscle biopsy) with either isolated or associated symptoms including ataxia, dementia and ALS-like presentation in a large French family. Functional assays demonstrated the variant induces mitochondrial fragmentation. 1 fam - PMID: 25193783 - c.43C>A, p.Arg15Ser & c.172G>C, p.Gly58Arg in cis segregates with mitochondrial myopathy in members presenting with exercise intolerance and a proximal myopathy in a large Puerto Rican family. Functional assays demonstrated the Gly58Arg variant induced mitochondrial fragmentation. 0 - PMID: 29519717 - c.286C>A, p.Pro96Thr identified homozygous in an Italian mitochondrial myopathy case. However, this is a common variant in the African/African American population in gnomAD v2.1 (MAF=0.20, 336 homozygotes) and would be classified as benign. Fxnl - PMID: 29112723 - Chchd10 knockout mice are viable, and have no gross phenotypes, no bioenergetic defects or ultrastructural mitochondrial abnormalities in the brain, heart or skeletal muscle. Cells expressing CHCHD10 S59L or R15L mutants, but not WT, had impaired mitochondrial energy metabolism. Suggested toxic gain of function mechanism of disease Animal model - PMID: 30874923 - knock-in CHCHD10 S59L/+ mouse model demonstrates mitochondrial myopathy with mtDNA instability Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.99 | C1QBP | Bryony Thompson Marked gene: C1QBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.99 | C1QBP | Bryony Thompson Gene: c1qbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.99 | C1QBP | Bryony Thompson Phenotypes for gene: C1QBP were changed from to Progressive external opthalmoplegia; mitochondrial myopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.98 | C1QBP | Bryony Thompson Publications for gene: C1QBP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.97 | C1QBP | Bryony Thompson Classified gene: C1QBP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.97 | C1QBP | Bryony Thompson Added comment: Comment on list classification: Exercise intolerance is a presenting feature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.97 | C1QBP | Bryony Thompson Gene: c1qbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.93 | C1QBP |
Bryony Thompson gene: C1QBP was added gene: C1QBP was added to Rhabdomyolysis. Sources: Literature Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.92 |
Zornitza Stark HPO terms changed from to Rhabdomyolysis, HP:0003201 List of related panels changed from to Rhabdomyolysis; HP:0003201 |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.92 |
Zornitza Stark HPO terms changed from to Rhabdomyolysis, HP:0003201 List of related panels changed from to Rhabdomyolysis; HP:0003201 |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.91 | MLIP | Zornitza Stark Phenotypes for gene: MLIP were changed from MLIP-related myopathy with rhabdomyolysis to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | MLIP | Zornitza Stark reviewed gene: MLIP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | PGM1 | Zornitza Stark Tag treatable tag was added to gene: PGM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | ACAD9 | Zornitza Stark Tag treatable tag was added to gene: ACAD9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | COQ8A | Zornitza Stark Tag treatable tag was added to gene: COQ8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | ACADVL | Zornitza Stark Tag treatable tag was added to gene: ACADVL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | ETFA | Zornitza Stark Tag treatable tag was added to gene: ETFA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | ETFDH | Zornitza Stark Tag treatable tag was added to gene: ETFDH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | HADHB | Zornitza Stark Tag treatable tag was added to gene: HADHB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | HADHA | Zornitza Stark Tag treatable tag was added to gene: HADHA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | ACADM | Zornitza Stark Tag treatable tag was added to gene: ACADM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | SLC22A5 | Zornitza Stark Tag treatable tag was added to gene: SLC22A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | CPT2 | Zornitza Stark Tag treatable tag was added to gene: CPT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | ASPH | Zornitza Stark Marked gene: ASPH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | ASPH | Zornitza Stark Gene: asph has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.90 | ASPH | Zornitza Stark Phenotypes for gene: ASPH were changed from Exertional heat illness; malignant hyperthermia susceptibility to Exertional heat illness; malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.89 | ASPH | Zornitza Stark Classified gene: ASPH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.89 | ASPH | Zornitza Stark Gene: asph has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.88 | ASPH |
Paul De Fazio gene: ASPH was added gene: ASPH was added to Rhabdomyolysis. Sources: Literature Mode of inheritance for gene: ASPH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ASPH were set to 35697689 Phenotypes for gene: ASPH were set to Exertional heat illness; malignant hyperthermia susceptibility Review for gene: ASPH was set to AMBER gene: ASPH was marked as current diagnostic Added comment: In a study of 103 individuals (63 affected from 34 families, plus 40 sporadic cases) who had either a sentinel event of EHI or MH, or else a positive CHCT and a first degree releative with EHI/MH, and where RYR1 and CACNA1S Sanger sequencing was negative, the following variants in ASPH were identified in unrelated individuals: - c.161T > C in 2 members of a family with myalgias exacerbated by heat/exercise. One had elevated CK. Both had positive CHCT. An unaffected sibling did not have the variant. 27 hets in gnomad v2 / 17 hets in gnomad v3. - c.445G>C in a patient with MH, myalgias and muscle cramps worsened by heat and exercise. 4 hets in gnomad v2 / 3 hets in gnomad v3. Non-coding in the MANE transcript. - c.263A > C in a patient with EHI, diagnosed as MHN by in vitro contracture test. Absent from gnomad but non-coding in the MANE transcript. - c.605A > G in a patient with EHI, diagnosed as MHN by in vitro contracture test. 223 hets in gnomad v2 / 120 hets in gnomad v3; no homs. Non-coding in the MANE transcript. A zebrafish model and cell line functional studies supported pathogenicity of the c.161T > C and c.263A > C variants. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.88 | TK2 | Zornitza Stark Marked gene: TK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.88 | TK2 | Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.88 | TK2 | Zornitza Stark Publications for gene: TK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.87 | TK2 | Zornitza Stark reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33457207; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.87 | OBSCN | Zornitza Stark Phenotypes for gene: OBSCN were changed from Rhabdomyolysis, MONDO:0005290 to Rhabdomyolysis, MONDO:0005290, OBSCN-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.86 | OBSCN | Zornitza Stark Marked gene: OBSCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.86 | OBSCN | Zornitza Stark Gene: obscn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.86 | OBSCN | Zornitza Stark Classified gene: OBSCN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.86 | OBSCN | Zornitza Stark Gene: obscn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.85 | OBSCN |
Ee Ming Wong gene: OBSCN was added gene: OBSCN was added to Rhabdomyolysis. Sources: Literature Mode of inheritance for gene: OBSCN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OBSCN were set to PMID: 34957489 Phenotypes for gene: OBSCN were set to Rhabdomyolysis, MONDO:0005290 Penetrance for gene: OBSCN were set to unknown Review for gene: OBSCN was set to GREEN gene: OBSCN was marked as current diagnostic Added comment: -Six unrelated individuals with severe, recurrent rhabdomyolysis carrying bi-allelic loss of function variants -Three of six probands experienced acute renal failure -None presented with cardiac involvement/symptoms of cardiac disease -Patient muscles demonstrated reduced OBSCN expression and loss of obscurin protein Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.85 | MYH1 | Zornitza Stark Marked gene: MYH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.85 | MYH1 | Zornitza Stark Gene: myh1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.85 | MYH1 |
Zornitza Stark gene: MYH1 was added gene: MYH1 was added to Rhabdomyolysis. Sources: Literature Mode of inheritance for gene: MYH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYH1 were set to 33755318 Phenotypes for gene: MYH1 were set to rhabdomyolysis, MONDO:0005290 Review for gene: MYH1 was set to RED Added comment: 18 yr old male from a consaguineous family. WES identified homozygous c.1295A>C:p.K432T variant. Only 1 het in gnomad v2 and v3. No functional data. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.84 | MLIP | Zornitza Stark Marked gene: MLIP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.84 | MLIP | Zornitza Stark Gene: mlip has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.84 | MLIP | Zornitza Stark Classified gene: MLIP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.84 | MLIP | Zornitza Stark Gene: mlip has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.83 | MLIP |
Michelle Torres gene: MLIP was added gene: MLIP was added to Rhabdomyolysis. Sources: Literature Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLIP were set to 34581780 Phenotypes for gene: MLIP were set to MLIP-related myopathy with rhabdomyolysis Review for gene: MLIP was set to GREEN Added comment: PMID: 34581780: 7 individuals with 6 families with truncating (one splice that also resulted in a frameshift variant) biallelic variants (used NM_1281746). In 3 patients patients’ skeletal muscle, these variants were shown to cause reduction overall RNA expression levels of the predominant MLIP isoform. Patients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels. Sources: Literature Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.83 | PGK1 | Zornitza Stark Phenotypes for gene: PGK1 were changed from Phosphoglycerate kinase 1 deficiency 300653 to Phosphoglycerate kinase 1 deficiency 300653; MONDO:0010392 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.82 | PNPLA2 | Zornitza Stark reviewed gene: PNPLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.81 | SCN4A | Zornitza Stark Marked gene: SCN4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.81 | SCN4A | Zornitza Stark Gene: scn4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.81 | SCN4A | Zornitza Stark Publications for gene: SCN4A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.80 | SCN4A | Zornitza Stark reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23801527, 28779239, 32978841; Phenotypes: SCN4A-related muscle disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.80 |
Zornitza Stark Panel name changed from Rhabdomyolysis RMH to Rhabdomyolysis Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.79 | ACAD9 | Zornitza Stark Marked gene: ACAD9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.79 | ACAD9 | Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.79 | ACAD9 | Zornitza Stark Publications for gene: ACAD9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.78 | ACADVL | Zornitza Stark Marked gene: ACADVL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.78 | ACADVL | Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.78 | ACADVL | Zornitza Stark Publications for gene: ACADVL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.77 | ALDOA | Zornitza Stark Marked gene: ALDOA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.77 | ALDOA | Zornitza Stark Gene: aldoa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.77 | ALDOA | Zornitza Stark Publications for gene: ALDOA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.76 | ENO3 | Zornitza Stark Marked gene: ENO3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.76 | ENO3 | Zornitza Stark Gene: eno3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.76 | ENO3 | Zornitza Stark Phenotypes for gene: ENO3 were changed from ?Glycogen storage disease XIII 612932 to Glycogen storage disease XIII 612932 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.75 | ENO3 | Zornitza Stark Publications for gene: ENO3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.74 | ETFA | Zornitza Stark Marked gene: ETFA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.74 | ETFA | Zornitza Stark Gene: etfa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.74 | ETFA | Zornitza Stark Publications for gene: ETFA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.73 | ETFDH | Zornitza Stark Marked gene: ETFDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.73 | ETFDH | Zornitza Stark Gene: etfdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.73 | ETFDH | Zornitza Stark Publications for gene: ETFDH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.72 | GYG1 | Zornitza Stark Marked gene: GYG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.72 | GYG1 | Zornitza Stark Gene: gyg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.72 | GYG1 | Zornitza Stark Publications for gene: GYG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.71 | GYS1 | Zornitza Stark Marked gene: GYS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.71 | GYS1 | Zornitza Stark Gene: gys1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.71 | GYS1 | Zornitza Stark Publications for gene: GYS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.70 | TANGO2 | Zornitza Stark Marked gene: TANGO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.70 | TANGO2 | Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.70 | TANGO2 | Zornitza Stark Publications for gene: TANGO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.69 | TAZ | Zornitza Stark Marked gene: TAZ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.69 | TAZ | Zornitza Stark Gene: taz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.69 | TWNK | Zornitza Stark Marked gene: TWNK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.69 | TWNK | Zornitza Stark Gene: twnk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.69 | ETFB | Zornitza Stark Marked gene: ETFB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.69 | ETFB | Zornitza Stark Gene: etfb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.69 | ETFB | Zornitza Stark Publications for gene: ETFB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | AHCY | Zornitza Stark Marked gene: AHCY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | AHCY | Zornitza Stark Gene: ahcy has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | AMACR | Zornitza Stark Marked gene: AMACR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | AMACR | Zornitza Stark Gene: amacr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | COL4A1 | Zornitza Stark Marked gene: COL4A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | COL4A1 | Zornitza Stark Gene: col4a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | DGUOK | Zornitza Stark Marked gene: DGUOK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | DGUOK | Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | DNA2 | Zornitza Stark Marked gene: DNA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | DNA2 | Zornitza Stark Gene: dna2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | FKTN | Zornitza Stark Marked gene: FKTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | FKTN | Zornitza Stark Gene: fktn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | KCNJ11 | Zornitza Stark Marked gene: KCNJ11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | KCNJ11 | Zornitza Stark Gene: kcnj11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | MYH3 | Zornitza Stark Marked gene: MYH3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | MYH3 | Zornitza Stark Gene: myh3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | PHKB | Zornitza Stark Marked gene: PHKB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | PHKB | Zornitza Stark Gene: phkb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.68 | PHKB | Zornitza Stark Publications for gene: PHKB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.67 | PRKAG2 | Zornitza Stark Marked gene: PRKAG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.67 | PRKAG2 | Zornitza Stark Gene: prkag2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.67 | SLC25A20 | Zornitza Stark Marked gene: SLC25A20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.67 | SLC25A20 | Zornitza Stark Gene: slc25a20 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.67 | SUCLA2 | Zornitza Stark Marked gene: SUCLA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.67 | SUCLA2 | Zornitza Stark Gene: sucla2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.67 | TSEN54 | Zornitza Stark Marked gene: TSEN54 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.67 | TSEN54 | Zornitza Stark Gene: tsen54 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.67 | TSEN54 | Zornitza Stark Publications for gene: TSEN54 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.66 | TSFM | Zornitza Stark Marked gene: TSFM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.66 | TSFM | Zornitza Stark Gene: tsfm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.66 | TSFM | Zornitza Stark Publications for gene: TSFM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.65 | TTN | Zornitza Stark Marked gene: TTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.65 | TTN | Zornitza Stark Gene: ttn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.65 | TYMP | Zornitza Stark Marked gene: TYMP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.65 | TYMP | Zornitza Stark Gene: tymp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.65 | TYMP | Zornitza Stark Publications for gene: TYMP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.64 | PGM1 | Zornitza Stark Marked gene: PGM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.64 | PGM1 | Zornitza Stark Gene: pgm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.64 | PGM1 | Zornitza Stark Phenotypes for gene: PGM1 were changed from Congenital disorder of glycosylation, type It 614921 to Congenital disorder of glycosylation, type It, MIM# 614921 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.63 | PGM1 | Zornitza Stark Publications for gene: PGM1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.61 | TRPV1 | Bryony Thompson Marked gene: TRPV1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.61 | TRPV1 | Bryony Thompson Gene: trpv1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.61 | TRPV1 | Bryony Thompson Classified gene: TRPV1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.61 | TRPV1 | Bryony Thompson Gene: trpv1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.60 | TRPV1 |
Bryony Thompson gene: TRPV1 was added gene: TRPV1 was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: TRPV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPV1 were set to 32471784 Phenotypes for gene: TRPV1 were set to Exertional heat stroke; rhabdomyolysis Review for gene: TRPV1 was set to AMBER Added comment: Two unrelated cases reported with rhabdomyolysis and supporting in vitro functional assays for the 2 missense variants. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.59 | TRAPPC2L | Zornitza Stark Tag founder tag was added to gene: TRAPPC2L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.59 | TRAPPC2L | Zornitza Stark Marked gene: TRAPPC2L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.59 | TRAPPC2L | Zornitza Stark Gene: trappc2l has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.59 | TRAPPC2L |
Zornitza Stark gene: TRAPPC2L was added gene: TRAPPC2L was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC2L were set to 30120216; 32843486 Phenotypes for gene: TRAPPC2L were set to Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Review for gene: TRAPPC2L was set to RED Added comment: Total of three families, but two share a founder variant, and there are some disparities between the clinical presentations reported in the two publications. Rating Red on this panel as rhabdomyolysis not reported in all families. PMID: 30120216 (2018) - Two unrelated probands with an identical homozygous missense (c.109G>T, p.Asp37Tyr) variant in TRAPPC2L. Both individuals presented neurodevelopmental delay, febrile illness-induced encephalopathy, and episodic rhabdomyolysis, followed by developmental arrest, seizures and tetraplegia. The variant segregated with the phenotype in each family, and haplotype analysis suggested a founder effect. The mutant protein was expressed in patient fibroblasts, but displayed membrane trafficking delays. Studies in yeast showed that the variant impaired interaction with TRAPPC10, and increased levels of the active RAB11. PMID: 32843486 (2020) - In an Ashkenazi Jewish family with three affected sibs with GDD/ID, WGS revealed a segregating homozygous missense variant (c.5G>C, p.Ala2Gly) in the TRAPPC2L gene. No seizures, brain MRI abnormalities, or illness provoked regression were documented in this family. Comparable to the previous study, the variant resulted in delayed ER-to-Golgi trafficking and elevated levels of active RAB11. Studies using yeast and in vitro binding, showed that the variant disrupted interaction with another core TRAPP protein, TRAPPC6a. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.58 | ATP2A1 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.57 | LPIN1 | Zornitza Stark Marked gene: LPIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.57 | LPIN1 | Zornitza Stark Gene: lpin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.57 | LPIN1 | Zornitza Stark Publications for gene: LPIN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.56 | LPIN1 | Zornitza Stark reviewed gene: LPIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28649549, 18817903, 32410653; Phenotypes: Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.56 | AMPD1 | Zornitza Stark Marked gene: AMPD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.56 | AMPD1 | Zornitza Stark Gene: ampd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.56 | AMPD1 | Zornitza Stark Classified gene: AMPD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.56 | AMPD1 | Zornitza Stark Gene: ampd1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.55 | AMPD1 | Zornitza Stark Tag disputed tag was added to gene: AMPD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.55 | AMPD1 | Zornitza Stark reviewed gene: AMPD1: Rating: RED; Mode of pathogenicity: None; Publications: 21343608, 27296017; Phenotypes: Myopathy due to myoadenylate deaminase deficiency (MIM#615511); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.55 | ATP2A1 | Zornitza Stark Marked gene: ATP2A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.55 | ATP2A1 | Zornitza Stark Gene: atp2a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.55 | ATP2A1 | Zornitza Stark Classified gene: ATP2A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.55 | ATP2A1 | Zornitza Stark Gene: atp2a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.54 | ATP2A1 |
Zornitza Stark gene: ATP2A1 was added gene: ATP2A1 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP2A1 were set to 32040565 Phenotypes for gene: ATP2A1 were set to Brody myopathy, MIM# 601003 Review for gene: ATP2A1 was set to AMBER Added comment: Two patients reported with rhabdomyolysis Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.53 | YARS2 | Bryony Thompson Marked gene: YARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.53 | YARS2 | Bryony Thompson Gene: yars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.53 | YARS2 | Bryony Thompson Classified gene: YARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.53 | YARS2 | Bryony Thompson Gene: yars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.52 | YARS2 |
Bryony Thompson gene: YARS2 was added gene: YARS2 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YARS2 were set to 28395030 Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561 Review for gene: YARS2 was set to GREEN Added comment: Exercise intolerance is a prominent presenting feature of the condition. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.51 | TYMP | Bryony Thompson changed review comment from: Cannot find any evidence that rhabdomyolysis is a feature of the condition. This condition has features of a visceral myopathy.; to: Cannot find any evidence that rhabdomyolysis is a feature of the condition. One case reported with exercise intolerance as a presenting feature of the condition. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.51 | TYMP | Bryony Thompson edited their review of gene: TYMP: Changed publications: 24199812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.51 | TTN |
Bryony Thompson gene: TTN was added gene: TTN was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 31353864 Phenotypes for gene: TTN were set to Congenital titinopathy; exercise intolerance Review for gene: TTN was set to RED Added comment: Exercise intolerance only reported in two cases. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.50 | TSFM | Bryony Thompson edited their review of gene: TSFM: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.50 | TSFM | Bryony Thompson edited their review of gene: TSFM: Changed rating: AMBER; Changed publications: 31267352, 17033963 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.50 | TSEN54 | Bryony Thompson edited their review of gene: TSEN54: Changed publications: 23177318; Changed phenotypes: Pontocerebellar hypoplasia type 2A MIM#277470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.50 | TSEN54 | Bryony Thompson changed review comment from: Cannot find any evidence that rhabdomyolysis is a feature of the condition. Hypertonia reported which is neurogenic.; to: Single case reported with recurrent rhabdomyolysis and PCH with a homozygous variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.50 | TNNT1 | Bryony Thompson Marked gene: TNNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.50 | TNNT1 | Bryony Thompson Gene: tnnt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.50 | TNNT1 | Bryony Thompson Classified gene: TNNT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.50 | TNNT1 | Bryony Thompson Gene: tnnt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.49 | TNNT1 |
Bryony Thompson gene: TNNT1 was added gene: TNNT1 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNNT1 were set to 31970803 Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type MIM#605355 Review for gene: TNNT1 was set to AMBER Added comment: 4 individuals belonging to 3 apparently unrelated families of French Canadian ancestry harbouring a novel homozygous TNNT1 (NM_003283.6:c.287T>C; p.Leu96Pro) missense with recurrent episodes of rhabdomyolysis. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.48 | TAZ | Bryony Thompson Classified gene: TAZ as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.48 | TAZ | Bryony Thompson Gene: taz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.47 | TAZ |
Bryony Thompson gene: TAZ was added gene: TAZ was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAZ were set to 26845103 Phenotypes for gene: TAZ were set to Barth syndrome MIM#302060 Review for gene: TAZ was set to GREEN Added comment: Exercise intolerance is a prominent feature of the condition. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.46 | SLC25A20 |
Bryony Thompson gene: SLC25A20 was added gene: SLC25A20 was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A20 were set to 24088670 Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency MIM#212138 Review for gene: SLC25A20 was set to RED Added comment: Single case with rhabdomyolysis with biallelic variants. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.45 | SLC25A4 | Bryony Thompson Marked gene: SLC25A4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.45 | SLC25A4 | Bryony Thompson Gene: slc25a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.45 | SLC25A4 | Bryony Thompson Classified gene: SLC25A4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.45 | SLC25A4 | Bryony Thompson Gene: slc25a4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.44 | SLC25A4 |
Bryony Thompson gene: SLC25A4 was added gene: SLC25A4 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A4 were set to 28823815 Phenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418 Review for gene: SLC25A4 was set to GREEN Added comment: Five unrelated cases reported with exercise intolerance as a presenting feature of the condition. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.43 | SGCA | Bryony Thompson Marked gene: SGCA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.43 | SGCA | Bryony Thompson Gene: sgca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.43 | SGCA | Bryony Thompson Classified gene: SGCA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.43 | SGCA | Bryony Thompson Gene: sgca has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.42 | SGCA |
Bryony Thompson gene: SGCA was added gene: SGCA was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGCA were set to 27297959; 26453141; 23989969 Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Review for gene: SGCA was set to GREEN Added comment: Four unrelated cases reported with rhabdomyolysis or exercise intolerance. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.41 | KCNJ11 |
Bryony Thompson gene: KCNJ11 was added gene: KCNJ11 was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820 Review for gene: KCNJ11 was set to RED Added comment: Single consanguineous family reported with congenital hyperinsulinism and rhabdomyolysis Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.40 | HMBS | Bryony Thompson Marked gene: HMBS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.40 | HMBS | Bryony Thompson Gene: hmbs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.40 | HMBS | Bryony Thompson Classified gene: HMBS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.40 | HMBS | Bryony Thompson Gene: hmbs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.39 | HMBS |
Bryony Thompson gene: HMBS was added gene: HMBS was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HMBS were set to 25389600; 18647325 Phenotypes for gene: HMBS were set to Porphyria, acute intermittent MIM#176000 Review for gene: HMBS was set to AMBER Added comment: Two cases reported with rhabdomyolysis. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.38 | FDX2 | Bryony Thompson Marked gene: FDX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.38 | FDX2 | Bryony Thompson Gene: fdx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.38 | FDX2 | Bryony Thompson Classified gene: FDX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.38 | FDX2 | Bryony Thompson Gene: fdx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.37 | FDX2 |
Bryony Thompson gene: FDX2 was added gene: FDX2 was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDX2 were set to 24281368; 30010796; 28803783 Phenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Review for gene: FDX2 was set to GREEN Added comment: Three unrelated cases reported with rhabdomyolysis/myoglobinuria. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.36 | DGUOK |
Bryony Thompson gene: DGUOK was added gene: DGUOK was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 23043144 Phenotypes for gene: DGUOK were set to Rhabdomyolisis; lower limb weakness Review for gene: DGUOK was set to RED Added comment: Single case reported with rhabdomyolysis Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.35 | CASQ1 | Bryony Thompson Marked gene: CASQ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.35 | CASQ1 | Bryony Thompson Gene: casq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.35 | CASQ1 | Bryony Thompson Classified gene: CASQ1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.35 | CASQ1 | Bryony Thompson Gene: casq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.34 | CASQ1 |
Bryony Thompson gene: CASQ1 was added gene: CASQ1 was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CASQ1 were set to 30258016 Phenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with CASQ1 aggregates MIM#616231 Review for gene: CASQ1 was set to GREEN Added comment: Exercise intolerance has been reported as the presenting symptom in at least 5 cases, mainly with the described founder mutation (p.Asp244Gly). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.33 | PNPLA2 | Bryony Thompson Marked gene: PNPLA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.33 | PNPLA2 | Bryony Thompson Gene: pnpla2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.33 | PNPLA2 | Bryony Thompson Classified gene: PNPLA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.33 | PNPLA2 | Bryony Thompson Gene: pnpla2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.32 | PNPLA2 |
Bryony Thompson gene: PNPLA2 was added gene: PNPLA2 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 18952067; 25287355; 25956450 Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy MIM#610717 Review for gene: PNPLA2 was set to GREEN Added comment: Three unrelated families reported with exercise intolerance as a presenting feature of the condition. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.31 | AMACR |
Bryony Thompson gene: AMACR was added gene: AMACR was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMACR were set to 20921516 Phenotypes for gene: AMACR were set to rhabdomyolysis Review for gene: AMACR was set to RED Added comment: Single case with rahbdomyolysis reported, with a homozygous missense Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.30 | MYH3 |
Bryony Thompson gene: MYH3 was added gene: MYH3 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH3 were set to 28779239 Phenotypes for gene: MYH3 were set to paresthesia; rhabdomyolysis Review for gene: MYH3 was set to RED Added comment: Single case with rhabdomyolysis reported. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.29 | TWNK | Bryony Thompson Classified gene: TWNK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.29 | TWNK | Bryony Thompson Gene: twnk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.28 | TWNK |
Bryony Thompson gene: TWNK was added gene: TWNK was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: TWNK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TWNK were set to 20880070 Phenotypes for gene: TWNK were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Review for gene: TWNK was set to GREEN Added comment: Exercise intolerance reported as a presenting feature of the condition in at least 5 cases. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.27 | AHCY |
Bryony Thompson gene: AHCY was added gene: AHCY was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 28779239 Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 Review for gene: AHCY was set to RED Added comment: Single case reported with rhabdomyolysis Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.26 | COQ8A | Bryony Thompson Marked gene: COQ8A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.26 | COQ8A | Bryony Thompson Gene: coq8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.26 | COQ8A | Bryony Thompson Classified gene: COQ8A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.26 | COQ8A | Bryony Thompson Gene: coq8a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.25 | COQ8A |
Bryony Thompson gene: COQ8A was added gene: COQ8A was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8A were set to 32337771 Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 MIM#612016 Review for gene: COQ8A was set to GREEN gene: COQ8A was marked as current diagnostic Added comment: Exercise intolerance is a presenting feature in 25% of cases (out of 59 total). Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.22 | GMPPB | Bryony Thompson Marked gene: GMPPB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.22 | GMPPB | Bryony Thompson Gene: gmppb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.22 | GMPPB | Bryony Thompson Classified gene: GMPPB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.22 | GMPPB | Bryony Thompson Gene: gmppb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.21 | GMPPB |
Bryony Thompson gene: GMPPB was added gene: GMPPB was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GMPPB were set to 28456886; 27874200; 25681410 Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352; Limb myalgia; exercise intolerance; myoglobinuria Review for gene: GMPPB was set to GREEN Added comment: Three unrelated cases reported with rhabdomyolysis. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.20 | DNA2 |
Bryony Thompson gene: DNA2 was added gene: DNA2 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: DNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNA2 were set to 31636600 Phenotypes for gene: DNA2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 Review for gene: DNA2 was set to RED Added comment: Single case reported with rhabdomyolysis Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.19 | Bryony Thompson removed gene:CYP2C8 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.18 | CYP2C8 | Bryony Thompson Classified gene: CYP2C8 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.18 | CYP2C8 | Bryony Thompson Gene: cyp2c8 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.17 | COL4A1 |
Bryony Thompson gene: COL4A1 was added gene: COL4A1 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A1 were set to 31540749 Phenotypes for gene: COL4A1 were set to Recurrent rhabdomyolysis; infections; hypertrophic cardiomyopathy. Review for gene: COL4A1 was set to RED Added comment: Single case reported with rhabdomyolysis Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.16 | CHKB | Bryony Thompson Marked gene: CHKB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.16 | CHKB | Bryony Thompson Gene: chkb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.16 | CHKB |
Bryony Thompson gene: CHKB was added gene: CHKB was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 26782016 Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type MIM#602541 Review for gene: CHKB was set to RED Added comment: Single family reported with rhbdomyolysis Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.14 | ETFB | Bryony Thompson Classified gene: ETFB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.14 | ETFB | Bryony Thompson Gene: etfb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.13 | ACADM | Bryony Thompson Classified gene: ACADM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.13 | ACADM | Bryony Thompson Gene: acadm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.12 | ACADM | Bryony Thompson changed review comment from: Rhabdomyolysis can be a prominent feature of cases with MCAD deficiency.; to: Rhabdomyolysis can be a prominent feature of cases with MCAD deficiency. >3 cases reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.12 | ACADM | Bryony Thompson edited their review of gene: ACADM: Added comment: Rhabdomyolysis can be a prominent feature of cases with MCAD deficiency.; Changed rating: GREEN; Changed publications: 7876853, 12897989, 20049534 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.12 | ACADM | Bryony Thompson Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.12 | TYMP | Bryony Thompson Classified gene: TYMP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.12 | TYMP | Bryony Thompson Gene: tymp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.11 | PHKB | Bryony Thompson Classified gene: PHKB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.11 | PHKB | Bryony Thompson Gene: phkb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.10 |
Bryony Thompson Panel name changed from Rhabdomyolysis_RMH to Rhabdomyolysis RMH Panel status changed from internal to public Panel types changed to Royal Melbourne Hospital; Rare Disease |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.8 | TSFM | Bryony Thompson Classified gene: TSFM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.8 | TSFM | Bryony Thompson Gene: tsfm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.7 | TSFM | Bryony Thompson reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: None; Publications: 31267352; Phenotypes: Combined oxidative phosphorylation deficiency 3 MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.7 | TYMP | Bryony Thompson reviewed gene: TYMP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.7 | TSEN54 | Bryony Thompson Classified gene: TSEN54 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.7 | TSEN54 | Bryony Thompson Gene: tsen54 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.6 | TSEN54 | Bryony Thompson reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.6 | SUCLA2 | Bryony Thompson Classified gene: SUCLA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.6 | SUCLA2 | Bryony Thompson Gene: sucla2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.5 | SUCLA2 | Bryony Thompson reviewed gene: SUCLA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) MIM#612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.5 | PRKAG2 | Bryony Thompson Classified gene: PRKAG2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.5 | PRKAG2 | Bryony Thompson Gene: prkag2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.4 | PRKAG2 | Bryony Thompson reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.4 | FKTN | Bryony Thompson Classified gene: FKTN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.4 | FKTN | Bryony Thompson Gene: fktn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.3 | FKTN | Bryony Thompson reviewed gene: FKTN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.3 | ETFB | Bryony Thompson Classified gene: ETFB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.3 | ETFB | Bryony Thompson Gene: etfb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.2 | ETFB | Bryony Thompson reviewed gene: ETFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 12815589, 7912128; Phenotypes: Glutaric acidemia IIB MIM#231680; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.2 | ACADM | Bryony Thompson Marked gene: ACADM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.2 | ACADM | Bryony Thompson Gene: acadm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.2 | ACADM | Bryony Thompson Classified gene: ACADM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.2 | ACADM | Bryony Thompson Gene: acadm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.1 | ACADM | Bryony Thompson reviewed gene: ACADM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | TYMP |
Bryony Thompson gene: TYMP was added gene: TYMP was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | TSFM |
Bryony Thompson gene: TSFM was added gene: TSFM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 610505 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | TSEN54 |
Bryony Thompson gene: TSEN54 was added gene: TSEN54 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to ?Pontocerebellar hypoplasia type 5 610204; Pontocerebellar hypoplasia type 4 225753; Pontocerebellar hypoplasia type 2A 277470 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | TK2 |
Bryony Thompson gene: TK2 was added gene: TK2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | TANGO2 |
Bryony Thompson gene: TANGO2 was added gene: TANGO2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | SUCLA2 |
Bryony Thompson gene: SUCLA2 was added gene: SUCLA2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | SLC22A5 |
Bryony Thompson gene: SLC22A5 was added gene: SLC22A5 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary 212140 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | SIL1 |
Bryony Thompson gene: SIL1 was added gene: SIL1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome 248800 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | SCN4A |
Bryony Thompson gene: SCN4A was added gene: SCN4A was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN4A were set to 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | RYR1 |
Bryony Thompson gene: RYR1 was added gene: RYR1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RYR1 were set to {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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | RRM2B |
Bryony Thompson gene: RRM2B was added gene: RRM2B was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RRM2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | RBCK1 |
Bryony Thompson gene: RBCK1 was added gene: RBCK1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency 615895 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | PYGM |
Bryony Thompson gene: PYGM was added gene: PYGM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to Glycogen storage disease V McArdle disease 232600 AR |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | PRKAG2 |
Bryony Thompson gene: PRKAG2 was added gene: PRKAG2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAG2 were set to Wolff-Parkinson-White syndrome 194200; Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | POLG2 |
Bryony Thompson gene: POLG2 was added gene: POLG2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | POLG |
Bryony Thompson gene: POLG was added gene: POLG was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | PHKB |
Bryony Thompson gene: PHKB was added gene: PHKB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHKB were set to Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | PHKA1 |
Bryony Thompson gene: PHKA1 was added gene: PHKA1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHKA1 were set to Muscle glycogenosis 300559 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | PGM1 |
Bryony Thompson gene: PGM1 was added gene: PGM1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It 614921 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | PGK1 |
Bryony Thompson gene: PGK1 was added gene: PGK1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency 300653 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | PGAM2 |
Bryony Thompson gene: PGAM2 was added gene: PGAM2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PGAM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAM2 were set to Glycogen storage disease X 261670 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | PFKM |
Bryony Thompson gene: PFKM was added gene: PFKM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PFKM were set to Glycogen storage disease VII 232800 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | LPIN1 |
Bryony Thompson gene: LPIN1 was added gene: LPIN1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive 268200 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | LDHA |
Bryony Thompson gene: LDHA was added gene: LDHA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LDHA were set to Glycogen storage disease XI 612933 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | LAMP2 |
Bryony Thompson gene: LAMP2 was added gene: LAMP2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: LAMP2 were set to Danon disease 300257 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | ISCU |
Bryony Thompson gene: ISCU was added gene: ISCU was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ISCU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISCU were set to Myopathy with lactic acidosis, hereditary 255125 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | HADHB |
Bryony Thompson gene: HADHB was added gene: HADHB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | HADHA |
Bryony Thompson gene: HADHA was added gene: HADHA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | GYS1 |
Bryony Thompson gene: GYS1 was added gene: GYS1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle 611556 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | GYG1 |
Bryony Thompson gene: GYG1 was added gene: GYG1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYG1 were set to ?Glycogen storage disease XV 613507; Polyglucosan body myopathy 2 616199 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | GBE1 |
Bryony Thompson gene: GBE1 was added gene: GBE1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBE1 were set to Glycogen storage disease IV 232500 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | GAA |
Bryony Thompson gene: GAA was added gene: GAA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAA were set to Glycogen storage disease II 232300 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | FKTN |
Bryony Thompson gene: FKTN was added gene: FKTN was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Fukuyama congenital muscular dystrophy |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | FKRP |
Bryony Thompson gene: FKRP was added gene: FKRP was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | ETFDH |
Bryony Thompson gene: ETFDH was added gene: ETFDH was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC 231680 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | ETFB |
Bryony Thompson gene: ETFB was added gene: ETFB was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFB were set to Glutaric acidemia IIB 231680 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | ETFA |
Bryony Thompson gene: ETFA was added gene: ETFA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFA were set to Glutaric acidemia IIA 231680 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | ENO3 |
Bryony Thompson gene: ENO3 was added gene: ENO3 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ENO3 were set to ?Glycogen storage disease XIII 612932 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | DYSF |
Bryony Thompson gene: DYSF was added gene: DYSF was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768; Miyoshi muscular dystrophy 1 254130 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | DMD |
Bryony Thompson gene: DMD was added gene: DMD was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DMD were set to Becker muscular dystrophy 300376 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | CYP2C8 |
Bryony Thompson gene: CYP2C8 was added gene: CYP2C8 was added to Rhabdomyolysis_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: CYP2C8 was set to Unknown Phenotypes for gene: CYP2C8 were set to Rhabdomyolysis, cerivastatin-induced |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | CPT2 |
Bryony Thompson gene: CPT2 was added gene: CPT2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | CAV3 |
Bryony Thompson gene: CAV3 was added gene: CAV3 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CAV3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CAV3 were set to Muscular dystrophy, limb-girdle, type IC 607801; Rippling muscle disease 606072; Myopathy, distal, Tateyama type 614321 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | CACNA1S |
Bryony Thompson gene: CACNA1S was added gene: CACNA1S was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1S were set to {Malignant hyperthermia susceptibility 5}, 601887 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | ANO5 |
Bryony Thompson gene: ANO5 was added gene: ANO5 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO5 were set to Miyoshi muscular dystrophy 3 613319; Muscular dystrophy, limb-girdle, type 2L 611307 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | AMPD1 |
Bryony Thompson gene: AMPD1 was added gene: AMPD1 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMPD1 were set to Myopathy due to myoadenylate deaminase deficiency 615511; Rhabdomyolysis |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | ALDOA |
Bryony Thompson gene: ALDOA was added gene: ALDOA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOA were set to Glycogen storage disease XII 611881 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | AGL |
Bryony Thompson gene: AGL was added gene: AGL was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGL were set to Glycogen storage disease IIIa 232400; Glycogen storage disease IIIb 232400 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | ACADVL |
Bryony Thompson gene: ACADVL was added gene: ACADVL was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADVL were set to VLCAD deficiency 201475 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | ACADM |
Bryony Thompson gene: ACADM was added gene: ACADM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of 201450; Rhabdomyolysis |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | ACAD9 |
Bryony Thompson gene: ACAD9 was added gene: ACAD9 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rhabdomyolysis and Metabolic Myopathy v0.0 | Bryony Thompson Added panel Rhabdomyolysis_RMH |