Retinal disorders
Gene: PROM1EnsemblGeneIds (GRCh38): ENSG00000007062
EnsemblGeneIds (GRCh37): ENSG00000007062
OMIM: 604365, Gene2Phenotype
PROM1 is in 5 panels
3 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy 12 (unknown); Macular dystrophy, retinal, 2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Retinitis pigmentosa 41 (BIALLELIC, autosomal or pseudoautosomal); Stargardt disease 4 (unknown)
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
-
- Achromatopsia, Cone, and Cone-rod Dystrophy
- Cone - rod dystrophy 12
- Macular dystrophy, retinal, 2
- Retinitis pigmentosa 41
- Stargardt disease 4
- Retinal Macular Dystrophy
- Retinitis pigmentosa 41, 612095
- Cone-rod dystrophy 12, 612657
- Stargardt disease 4, 603786
- Macular dystrophy, retinal, 2, 608051
- Stargardt Disease, Dominant
- Macular Dystrophy/Degeneration/Stargardt Disease
- Eye Disorders
- Retinitis pigmentosa
- Retinitis Pigmentosa, Recessive
- Cone-Rod Dystrophy, Dominant
- Retinitis pigmentosa 41, 612095
- OMIM
- 604365
- Clinvar variants
- Variants in PROM1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PROM1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PROM1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)PROM1 was created by ellenmcdonagh