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| Retinal disorders v4.34 | PDSS1 |
Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: PDSS1. Tag Q4_22_promote_green was removed from gene: PDSS1. |
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| Retinal disorders v4.34 | PDSS1 | Achchuthan Shanmugasundram reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.33 | PDSS1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PDSS1. Source NHS GMS was added to PDSS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v2.288 | PDSS1 | Sarah Leigh Classified gene: PDSS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.288 | PDSS1 | 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 v2.288 | PDSS1 | Sarah Leigh Gene: pdss1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.287 | PDSS1 |
Sarah Leigh gene: PDSS1 was added gene: PDSS1 was added to Retinal disorders. Sources: Literature Q4_22_MOI, Q4_22_promote_green tags were added to gene: PDSS1. Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to 36266294 Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, OMIM:614651; deafness-encephaloneuropathy-obesity-valvulopathy syndromeMONDO:0013837 Review for gene: PDSS1 was set to GREEN Added comment: Associated with Coenzyme Q10 deficiency, primary, 2, OMIM:614651 and as strong Gen2Phen gene for this condition. PMID: 36266294 reports nine variants in six unrelated cases with retinitis pigmentosa. Sources: Literature |
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