Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v2.5 | COX6A2 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: COX6A2. Tag Q3_22_NHS_review was removed from gene: COX6A2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v2.5 | COX6A2 | Achchuthan Shanmugasundram reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.113 | COX6A2 | Arina Puzriakova Publications for gene: COX6A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.112 | COX6A2 | Arina Puzriakova Mode of inheritance for gene: COX6A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.111 | COX6A2 | Arina Puzriakova Phenotypes for gene: COX6A2 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.99 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.95 | COX6A2 | Arina Puzriakova commented on gene: COX6A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v1.95 | COX6A2 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: COX6A2. Tag Q3_22_NHS_review tag was added to gene: COX6A2. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.134 | COX6A2 | Carl Fratter reviewed gene: COX6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.98 | COX6A2 | Ellen McDonagh Classified gene: COX6A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.98 | 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 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.98 | COX6A2 | Ellen McDonagh Gene: cox6a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.5 | COX6A2 | Ivone Leong reviewed gene: COX6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder, nuclear genes v0.2 | COX6A2 |
Ivone Leong gene: COX6A2 was added gene: COX6A2 was added to Possible mitochondrial disorder - nuclear genes. 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||