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Mitochondrial disorder with complex V deficiency v2.12 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 disorder with complex V deficiency v2.12 ATP5B Sarah Leigh reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disorder with complex V deficiency v2.12 ATP5B Sarah Leigh Penetrance for gene ATP5B was set from to None
Mitochondrial disorder with complex V deficiency v2.11 ATP5B Sarah Leigh Mode of inheritance for gene: ATP5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorder with complex V deficiency v2.10 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 disorder with complex V deficiency v2.9 ATP5B Sarah Leigh Publications for gene: ATP5B were set to
Mitochondrial disorder with complex V deficiency v0.23 ATP5B Ellen McDonagh Marked gene: ATP5B as ready
Mitochondrial disorder with complex V deficiency v0.23 ATP5B Ellen McDonagh Added comment: Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex V deficiency v0.23 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.22 ATP5B Carl Fratter reviewed gene: ATP5B: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.6 ATP5B Ellen McDonagh Classified gene: ATP5B as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.6 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.
Mitochondrial disorder with complex V deficiency v0.6 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.3 ATP5B Ivone Leong Tag new-gene-name tag was added to gene: ATP5B.
Mitochondrial disorder with complex V deficiency v0.3 ATP5B Ivone Leong commented on gene: ATP5B: ATP5B has a new gene name: ATPF1B
Mitochondrial disorder with complex V deficiency v0.3 ATP5B Ivone Leong reviewed gene: ATP5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.2 ATP5B Ivone Leong gene: ATP5B was added
gene: ATP5B was added to Mitochondrial disorder with complex V deficiency. 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