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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