| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mitochondrial disorder with complex IV deficiency v0.37 | COX5B | Ellen McDonagh Marked gene: COX5B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.37 | COX5B | 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 | COX5B | Ellen McDonagh Gene: cox5b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.31 | COX5B | Carl Fratter reviewed gene: COX5B: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.22 | COX5B | Ellen McDonagh Classified gene: COX5B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.22 | COX5B | 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 IV deficiency v0.22 | COX5B | Ellen McDonagh Gene: cox5b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.3 | COX5B | Ivone Leong reviewed gene: COX5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorder with complex IV deficiency v0.2 | COX5B |
Ivone Leong gene: COX5B was added gene: COX5B was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX5B was set to Unknown Phenotypes for gene: COX5B were set to No OMIM phenotype |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||