Retinal disorders
Gene: RP1
Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 13 Jul 2018, 4:01 p.m.
Comment on publications: Added publication as suggested by external reviewer to support the Green rating of this geneCreated: 13 Jul 2018, 3:57 p.m.
Comment on mode of inheritance: changed MOI as suggested by external expert reviews and OMIMCreated: 13 Jul 2018, 3:57 p.m.
https://www.omim.org/entry/603937Created: 1 Jun 2018, 6:03 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
rod-cone dystrophy
Publications
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 1
Variants in this GENE are reported as part of current diagnostic practice
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.
Source NHS GMS was added to RP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for gene: RP1 were set to Retinitis pigmentosa 1; Eye Disorders; Retinitis pigmentosa 1, 180100{Hypertriglyceridemia, susceptibility to}, 145750; Retinitis Pigmentosa, Dominant; Retinitis pigmentosa; rod-cone dystrophy
Publications for gene: RP1 were set to 25692139; 8931712; 10391211; 15863674
Publications for gene: RP1 were set to 25692139
Mode of inheritance for gene: RP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene RP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RP1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
RP1 was created by ellenmcdonagh