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Possible mitochondrial disorder, nuclear genes v3.68 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".
Possible mitochondrial disorder, nuclear genes v3.63 ATP5B Sarah Leigh reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder, nuclear genes v3.63 ATP5B Sarah Leigh Penetrance for gene ATP5B was set from to None
Possible mitochondrial disorder, nuclear genes v3.62 ATP5B Sarah Leigh Mode of inheritance for gene: ATP5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Possible mitochondrial disorder, nuclear genes v3.61 ATP5B Sarah Leigh Phenotypes for gene: ATP5B were changed from No OMIM phenotype to ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085
Possible mitochondrial disorder, nuclear genes v3.60 ATP5B Sarah Leigh Publications for gene: ATP5B were set to
Possible mitochondrial disorder, nuclear genes v3.48 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
Possible mitochondrial disorder, nuclear genes v0.134 ATP5B Ellen McDonagh Marked gene: ATP5B as ready
Possible mitochondrial disorder, nuclear genes v0.134 ATP5B Ellen McDonagh Added comment: Comment when marking as ready: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Possible mitochondrial disorder, nuclear genes v0.134 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.134 ATP5B Carl Fratter reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder, nuclear genes v0.19 ATP5B Ellen McDonagh Classified gene: ATP5B as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.19 ATP5B Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.19 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.5 ATP5B Ivone Leong edited their review of gene: ATP5B: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder, nuclear genes v0.2 ATP5B Ivone Leong Tag new-gene-name tag was added to gene: ATP5B.
Possible mitochondrial disorder, nuclear genes v0.2 ATP5B Ivone Leong commented on gene: ATP5B
Possible mitochondrial disorder, nuclear genes v0.2 ATP5B Ivone Leong gene: ATP5B was added
gene: ATP5B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5B was set to Unknown
Phenotypes for gene: ATP5B were set to No OMIM phenotype