Retinal disordersGene: CSPP1
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, 8:04 a.m.
Phenotypes for gene: CSPP1 were changed from Genetic Retinal Degeneration Conditions; Joubert syndrome 21 to Genetic Retinal Degeneration Conditions; Joubert syndrome 21,615636
Source NHS GMS was added to CSPP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for CSPP1 were set to Genetic Retinal Degeneration Conditions; Joubert syndrome 21
Mode of inheritance for CSPP1 was changed to BIALLELIC, autosomal or pseudoautosomal
CSPP1 was created by ellenmcdonagh
CSPP1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green