Retinal disorders
Gene: PRPF31
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Retinitis pigmentosa 11
Variants in this GENE are reported as part of current diagnostic practice
Incomplete penetrance of RP associated with mutations in PRPF31.Created: 6 Jul 2016, 8:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Retinitis pigmentosa
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
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.
Source NHS GMS was added to PRPF31. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene PRPF31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PRPF31 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
PRPF31 was created by ellenmcdonagh