Retinal disorders
Gene: RP1L1EnsemblGeneIds (GRCh38): ENSG00000183638
EnsemblGeneIds (GRCh37): ENSG00000183638
OMIM: 608581, Gene2Phenotype
RP1L1 is in 1 panel
6 reviews
Chris Campbell (Manchester University NHS Foundation Trust)
Exon 4 of RP1L1 is repetitive, highly polymorphic, difficult to sequence and multiple stop or frameshift variants from midway through the exon are observed in the GnomAD datset with high MAF/homozygotes occurences. Bialleleic late truncating variants are unlikely to represent a disease mechanism and are not considered to be clinically useful for reporting.Created: 18 Jul 2025, 3:27 p.m. | Last Modified: 18 Jul 2025, 3:27 p.m.
Panel Version: 8.9
Variants in this GENE are reported as part of current diagnostic practice
Eleanor Williams (Genomics England Curator)
The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 26 Sep 2024, 3:50 p.m. | Last Modified: 26 Sep 2024, 3:50 p.m.
Panel Version: 6.7
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arina Puzriakova (Genomics England Curator)
Comment 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
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
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
Ivone Leong (Genomics England Curator)
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
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Occult macular dystrophy, OMIM:613587 (AD)
- Retinitis pigmentosa 88, OMIM:618826 (AR)
- OMIM
- 608581
- Clinvar variants
- Variants in RP1L1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_24_MOI was removed from gene: RP1L1. Tag Q2_24_expert_review was removed from gene: RP1L1.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene RP1L1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: RP1L1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_24_MOI tag was added to gene: RP1L1. Tag Q2_24_expert_review tag was added to gene: RP1L1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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)
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: RP1L1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RP1L1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: RP1L1 were set to 15563508; 17652713; 15090652
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: RP1L1 were set to
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene RP1L1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created
Ellen McDonagh (Genomics England Curator)RP1L1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)RP1L1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green