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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