Retinal disorders
Gene: RP1EnsemblGeneIds (GRCh38): ENSG00000104237
EnsemblGeneIds (GRCh37): ENSG00000104237
OMIM: 603937, Gene2Phenotype
RP1 is in 3 panels
5 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Louise Daugherty (Genomics England Curator)
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.
Panagiotis Sergouniotis (Academic Clinic Fellow)
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
- PMID: 25692139
BRIDGE consortium (NIHRBR-RD)
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
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
-
- Retinitis pigmentosa 1
- Eye Disorders
- Retinitis pigmentosa 1, 180100{Hypertriglyceridemia, susceptibility to}, 145750
- Retinitis Pigmentosa, Dominant
- Retinitis pigmentosa
- rod-cone dystrophy
- OMIM
- 603937
- Clinvar variants
- Variants in RP1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: RP1 were set to 25692139; 8931712; 10391211; 15863674
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: RP1 were set to 25692139
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: RP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 RP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)RP1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)RP1 was created by ellenmcdonagh