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Mitochondrial disorder with complex V deficiency v2.6 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
Mitochondrial disorder with complex V deficiency v2.5 ATP5O Arina Puzriakova Phenotypes for gene: ATP5O were changed from No OMIM phenotype to Mitochondrial complex V (ATP synthase) deficiency
Mitochondrial disorder with complex V deficiency v2.4 ATP5O Arina Puzriakova Publications for gene: ATP5O were set to
Mitochondrial disorder with complex V deficiency v2.3 ATP5O Arina Puzriakova Mode of inheritance for gene: ATP5O was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v2.2 ATP5O Arina Puzriakova Classified gene: ATP5O as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v2.2 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.
Mitochondrial disorder with complex V deficiency v2.2 ATP5O Arina Puzriakova Gene: atp5o has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v2.1 ATP5O Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O.
Mitochondrial disorder with complex V deficiency v2.1 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
Mitochondrial disorder with complex V deficiency v0.25 ATP5O Ellen McDonagh Marked gene: ATP5O as ready
Mitochondrial disorder with complex V deficiency v0.25 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.
Mitochondrial disorder with complex V deficiency v0.25 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.22 ATP5O Carl Fratter reviewed gene: ATP5O: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.20 ATP5O Ellen McDonagh Classified gene: ATP5O as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.20 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.
Mitochondrial disorder with complex V deficiency v0.20 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.3 ATP5O Ivone Leong Tag new-gene-name tag was added to gene: ATP5O.
Mitochondrial disorder with complex V deficiency v0.3 ATP5O Ivone Leong commented on gene: ATP5O: ATP5O has a new gene name: ATP5PO
Mitochondrial disorder with complex V deficiency v0.3 ATP5O Ivone Leong reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.2 ATP5O Ivone Leong gene: ATP5O was added
gene: ATP5O was added to Mitochondrial disorder with complex V deficiency. 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