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Likely inborn error of metabolism v4.77 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".
Likely inborn error of metabolism v4.69 ATP5B Sarah Leigh Classified gene: ATP5B as Amber List (moderate evidence)
Likely inborn error of metabolism v4.69 ATP5B Sarah Leigh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v4.68 ATP5B Sarah Leigh reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism v4.68 ATP5B Sarah Leigh Penetrance for gene ATP5B was set from to None
Likely inborn error of metabolism v4.67 ATP5B Sarah Leigh Mode of inheritance for gene: ATP5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism v4.66 ATP5B Sarah Leigh Phenotypes for gene: ATP5B were changed from No OMIM phenotype to ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085
Likely inborn error of metabolism v4.65 ATP5B Sarah Leigh Publications for gene: ATP5B were set to
Likely inborn error of metabolism v1.54 ATP5B Louise Daugherty commented on gene: ATP5B
Likely inborn error of metabolism v1.54 ATP5B Louise Daugherty Tag new-gene-name tag was added to gene: ATP5B.
Likely inborn error of metabolism v0.4 ATP5B Ellen McDonagh gene: ATP5B was added
gene: ATP5B was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5B was set to Unknown
Phenotypes for gene: ATP5B were set to No OMIM phenotype