Retinal disordersGene: RP1L1
occult MD associated with hotspots, arRP associated with biallelic final exon truncations
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on mode of inheritance: Changed from monoallelic to biallelic as monoallelic is associated with Occult macular dystrophy and biallelic is associated with retinitis pigmentosa.
Created: 29 Aug 2019, 3:46 p.m. | Last Modified: 29 Aug 2019, 3:46 p.m.
Panel Version: 1.157
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.
Mode of inheritance for gene: RP1L1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to RP1L1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for gene: RP1L1 were set to 15563508; 17652713; 15090652
Publications for gene: RP1L1 were set to
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene RP1L1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RP1L1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
RP1L1 was created by ellenmcdonagh