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Possible mitochondrial disorder, nuclear genes v3.113 ATP5O Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ATP5O.
Tag Q3_23_NHS_review was removed from gene: ATP5O.
Possible mitochondrial disorder, nuclear genes v3.113 ATP5O Achchuthan Shanmugasundram reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.112 ATP5O Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5O.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v3.37 ATP5O Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Possible mitochondrial disorder, nuclear genes v3.36 ATP5O Sarah Leigh Tag Q3_23_NHS_review tag was added to gene: ATP5O.
Possible mitochondrial disorder, nuclear genes v3.33 ATP5O Carl Fratter edited their review of gene: ATP5O: Added comment: Consensus opinion from the 3 specialist mitochondrial providers.; Changed rating: GREEN; Changed phenotypes to: 620359 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.7 ATP5O Arina Puzriakova Phenotypes for gene: ATP5O were changed from No OMIM phenotype to Mitochondrial complex V (ATP synthase) deficiency
Possible mitochondrial disorder, nuclear genes v3.6 ATP5O Arina Puzriakova Mode of inheritance for gene: ATP5O was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v3.5 ATP5O Arina Puzriakova Publications for gene: ATP5O were set to
Possible mitochondrial disorder, nuclear genes v3.4 ATP5O Arina Puzriakova Classified gene: ATP5O as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v3.4 ATP5O Arina Puzriakova Added comment: Comment on list classification: There are now sufficient unrelated cases reported (3) to promote this gene to Green at the next GMS panel update.
Possible mitochondrial disorder, nuclear genes v3.4 ATP5O Arina Puzriakova Gene: atp5o has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v3.3 ATP5O Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O.
Possible mitochondrial disorder, nuclear genes v3.3 ATP5O Arina Puzriakova reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: None; Publications: 34954817, 35621276; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.137 ATP5O Ellen McDonagh Marked gene: ATP5O as ready
Possible mitochondrial disorder, nuclear genes v0.137 ATP5O 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 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.134 ATP5O Carl Fratter reviewed gene: ATP5O: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder, nuclear genes v0.28 ATP5O Ellen McDonagh Classified gene: ATP5O as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.28 ATP5O 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 v0.28 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.5 ATP5O Ivone Leong edited their review of gene: ATP5O: 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 ATP5O Ivone Leong Tag new-gene-name tag was added to gene: ATP5O.
Possible mitochondrial disorder, nuclear genes v0.2 ATP5O Ivone Leong commented on gene: ATP5O
Possible mitochondrial disorder, nuclear genes v0.2 ATP5O Ivone Leong gene: ATP5O was added
gene: ATP5O was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5O was set to Unknown
Phenotypes for gene: ATP5O were set to No OMIM phenotype