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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 |
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