Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Mitochondrial disorders v4.113 ATP5B Sarah Leigh commented on gene: ATP5B: In the opinion of Helen Brittain (Clinical Fellow, Genomics England) is "There is a lack of clarity over the penetrance, plus also the phenotypes are somewhat disparate (the twins had DD with episodic hyperthermia, whereas the other cases presented with dystonia). A gene:disease association cannot be made at this time".
Mitochondrial disorders v4.113 ATP5B Sarah Leigh Classified gene: ATP5B as Amber List (moderate evidence)
Mitochondrial disorders v4.113 ATP5B Sarah Leigh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.112 ATP5B Sarah Leigh reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorders v4.112 ATP5B Sarah Leigh Penetrance for gene ATP5B was set from to Complete
Mitochondrial disorders v4.111 ATP5B Sarah Leigh Mode of inheritance for gene: ATP5B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v4.110 ATP5B Sarah Leigh Phenotypes for gene: ATP5B were changed from No OMIM phenotype to ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085
Mitochondrial disorders v4.109 ATP5B Sarah Leigh Publications for gene: ATP5B were set to
Mitochondrial disorders v4.82 ATP5B Hannah Knight reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: 36239646, 36860166; Phenotypes: Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders ATP5B Louise Daugherty commented on ATP5B