Retinal disordersGene: RP2
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Retinitis pigmentosa 2
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 RP2. 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 RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
RP2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
RP2 was created by ellenmcdonagh