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Possible mitochondrial disorder, nuclear genes v3.113 ATP5E Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: ATP5E.
Possible mitochondrial disorder, nuclear genes v3.113 ATP5E Achchuthan Shanmugasundram Tag watchlist was removed from gene: ATP5E.
Tag Q1_24_promote_green was removed from gene: ATP5E.
Tag Q1_24_NHS_review was removed from gene: ATP5E.
Possible mitochondrial disorder, nuclear genes v3.113 ATP5E Achchuthan Shanmugasundram reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.112 ATP5E Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5E.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v3.103 ATP5E Sarah Leigh Tag new-gene-name was removed from gene: ATP5E.
Tag Q4_23_promote_green was removed from gene: ATP5E.
Tag Q4_23_NHS_review was removed from gene: ATP5E.
Tag watchlist tag was added to gene: ATP5E.
Tag Q1_24_promote_green tag was added to gene: ATP5E.
Tag Q1_24_NHS_review tag was added to gene: ATP5E.
Possible mitochondrial disorder, nuclear genes v3.103 ATP5E Sarah Leigh changed review comment from: PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for ATP5E (new gene name: ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710. Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant.; to: PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for ATP5E (new gene name: ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710. Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant. In addition, PMID: 34954817 reports significantly reduced ATPase amounts associated with the ATP5F1E variants.
Possible mitochondrial disorder, nuclear genes v3.69 ATP5E Sarah Leigh Phenotypes for gene: ATP5E were changed from ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053; mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547
Possible mitochondrial disorder, nuclear genes v3.68 ATP5E Sarah Leigh changed review comment from: PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for ATP5E (new gene name:ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710. Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant.; to: PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for ATP5E (new gene name: ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710. Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant.
Possible mitochondrial disorder, nuclear genes v3.68 ATP5E Sarah Leigh Tag Q4_23_expert_review was removed from gene: ATP5E.
Tag Q4_23_NHS_review tag was added to gene: ATP5E.
Possible mitochondrial disorder, nuclear genes v3.68 ATP5E Sarah Leigh reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder, nuclear genes v3.68 ATP5E Eleanor Williams Tag Q4_23_promote_green tag was added to gene: ATP5E.
Tag Q4_23_expert_review tag was added to gene: ATP5E.
Possible mitochondrial disorder, nuclear genes v3.52 ATP5E Sarah Leigh Publications for gene: ATP5E were set to 20566710; 25954304
Possible mitochondrial disorder, nuclear genes v3.48 ATP5E Hannah Knight reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.137 ATP5E Ellen McDonagh Marked gene: ATP5E as ready
Possible mitochondrial disorder, nuclear genes v0.137 ATP5E 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.
Possible mitochondrial disorder, nuclear genes v0.137 ATP5E Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.137 ATP5E Ellen McDonagh Publications for gene: ATP5E were set to
Possible mitochondrial disorder, nuclear genes v0.134 ATP5E Carl Fratter reviewed gene: ATP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: 20566710, 25954304; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.24 ATP5E Ellen McDonagh Classified gene: ATP5E as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.24 ATP5E 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 v0.24 ATP5E Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.5 ATP5E Ivone Leong edited their review of gene: ATP5E: 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: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.2 ATP5E Ivone Leong Tag new-gene-name tag was added to gene: ATP5E.
Possible mitochondrial disorder, nuclear genes v0.2 ATP5E Ivone Leong commented on gene: ATP5E
Possible mitochondrial disorder, nuclear genes v0.2 ATP5E Ivone Leong gene: ATP5E was added
gene: ATP5E was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5E were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053