Retinal disorders
Gene: PDSS1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 10:23 a.m. | Last Modified: 10 Oct 2023, 10:23 a.m.
Panel Version: 4.34
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 25 Oct 2022, 10:46 a.m. | Last Modified: 25 Oct 2022, 10:46 a.m.
Panel Version: 2.288
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: LiteratureCreated: 25 Oct 2022, 10:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 2, OMIM:614651; deafness-encephaloneuropathy-obesity-valvulopathy syndromeMONDO:0013837
Publications
Tag Q4_22_MOI was removed from gene: PDSS1. Tag Q4_22_promote_green was removed from gene: PDSS1.
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)
Gene: pdss1 has been classified as Amber List (Moderate Evidence).
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