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Mitochondrial disorder with complex IV deficiency v2.5 COX6A2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: COX6A2.
Tag Q3_22_NHS_review was removed from gene: COX6A2.
Mitochondrial disorder with complex IV deficiency v2.5 COX6A2 Achchuthan Shanmugasundram reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex IV deficiency v2.4 COX6A2 Achchuthan Shanmugasundram Source Expert Review Green was added to COX6A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v1.21 COX6A2 Arina Puzriakova Publications for gene: COX6A2 were set to
Mitochondrial disorder with complex IV deficiency v1.20 COX6A2 Arina Puzriakova Mode of inheritance for gene: COX6A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v1.19 COX6A2 Arina Puzriakova Phenotypes for gene: COX6A2 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Mitochondrial disorder with complex IV deficiency v1.17 COX6A2 Arina Puzriakova edited their review of gene: COX6A2: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.; Changed rating: GREEN; Changed publications to: 31155743, 23460811, 32744742; Changed phenotypes to: Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Set current diagnostic: yes
Mitochondrial disorder with complex IV deficiency v1.16 COX6A2 Arina Puzriakova commented on gene: COX6A2
Mitochondrial disorder with complex IV deficiency v1.16 COX6A2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: COX6A2.
Tag Q3_22_NHS_review tag was added to gene: COX6A2.
Mitochondrial disorder with complex IV deficiency v0.37 COX6A2 Ellen McDonagh Marked gene: COX6A2 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX6A2 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 IV deficiency v0.37 COX6A2 Ellen McDonagh Gene: cox6a2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.31 COX6A2 Carl Fratter reviewed gene: COX6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.23 COX6A2 Ellen McDonagh Classified gene: COX6A2 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.23 COX6A2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently 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 IV deficiency v0.23 COX6A2 Ellen McDonagh Gene: cox6a2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.3 COX6A2 Ivone Leong reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex IV deficiency v0.2 COX6A2 Ivone Leong gene: COX6A2 was added
gene: COX6A2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX6A2 was set to Unknown
Phenotypes for gene: COX6A2 were set to No OMIM phenotype