Retinal disorders
Gene: RP1L1Comment on mode of inheritance: This gene is associated with occult macular dystrophy (monoallelic variants) and retinitis pigmentosa (biallelic variants) (https://omim.org/entry/608581) with sufficient cases reported for each phenotype. Currently the monoallelic phenotype is not represented on any GMS panels.
Following curation and consultation with the Genomics England clinical team, there was agreement that macular dystrophy is part of the phenotypic target for this panel. Based on previous reviews, it is not clear why the monoallelic MOI was overwritten and therefore this gene will be flagged for specialist review to determine whether the MOI should stay as 'biallelic' or be updated to 'both mono- and biallelic'.Created: 10 Apr 2024, 2:59 p.m. | Last Modified: 10 Apr 2024, 2:59 p.m.
Panel Version: 4.83
occult MD associated with hotspots, arRP associated with biallelic final exon truncationsCreated: 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 BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Tag Q2_24_MOI tag was added to gene: RP1L1. Tag Q2_24_expert_review tag was added to gene: RP1L1.
Phenotypes for gene: RP1L1 were changed from Occult Macular Dystrophy; Occult macular dystrophy, 613587 to Occult macular dystrophy, OMIM:613587 (AD); Retinitis pigmentosa 88, OMIM:618826 (AR)
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