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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 v0.68 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 v0.36 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