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| Retinal disorders v4.34 | COQ2 |
Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: COQ2. Tag Q4_22_promote_green was removed from gene: COQ2. |
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| Retinal disorders v4.34 | COQ2 | Achchuthan Shanmugasundram reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.33 | COQ2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to COQ2. Source NHS GMS was added to COQ2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v2.290 | COQ2 | Sarah Leigh Classified gene: COQ2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.290 | COQ2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.290 | COQ2 | Sarah Leigh Gene: coq2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.289 | COQ2 |
Sarah Leigh gene: COQ2 was added gene: COQ2 was added to Retinal disorders. Sources: Literature Q4_22_MOI, Q4_22_promote_green tags were added to gene: COQ2. Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ2 were set to 36266294 Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, OMIM:607426; coenzyme Q10 deficiency, primary, 1, MONDO:0011829 Review for gene: COQ2 was set to GREEN Added comment: Associated with Coenzyme Q10 deficiency, primary, 1, OMIM:607426 and as definitive Gen2Phen gene for this condition. PMID: 36266294 reports four variants in three unrelated cases with retinitis pigmentosa. Sources: Literature |
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