Retinal disorders
Gene: PRPF6
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green.Created: 30 Jan 2023, 2:08 p.m. | Last Modified: 30 Jan 2023, 2:08 p.m.
Panel Version: 3.26
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 5 Oct 2022, 5:29 p.m. | Last Modified: 5 Oct 2022, 5:29 p.m.
Panel Version: 2.286
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is a third case published in PMID: 31456290; however, it is a publication on a big study and there is very little information about the family. p.(Phe941*) is found in 1 Israeli family with RP.Created: 28 Jul 2022, 3:03 p.m. | Last Modified: 28 Jul 2022, 3:03 p.m.
Panel Version: 2.281
Publications
Only two unrelated families reported, some functional data.Created: 16 Apr 2022, 5:45 a.m. | Last Modified: 16 Apr 2022, 5:45 a.m.
Panel Version: 2.256
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinitis pigmentosa 60, MIM# 613983
Publications
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:05 a.m.
Tag Q3_22_rating was removed from gene: PRPF6. Tag Q3_22_expert_review was removed from gene: PRPF6.
Tag Q3_21_expert_review was removed from gene: PRPF6. Tag Q3_22_rating tag was added to gene: PRPF6. Tag Q3_22_expert_review tag was added to gene: PRPF6.
Phenotypes for gene: PRPF6 were changed from Retinitis pigmentosa 60; Eye Disorders; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa; Retinitis pigmentosa 60, 613983 to Retinitis pigmentosa 60, OMIM:613983; retinitis pigmentosa 60, MONDO:0013516
Tag Q3_21_expert_review tag was added to gene: PRPF6.
Publications for gene: PRPF6 were set to
Source NHS GMS was added to PRPF6. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene PRPF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PRPF6 was created by ellenmcdonagh
PRPF6 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green