Retinal disordersGene: CTNNB1
Associated with phenotype in OMIM, not in G2P. At least 4 variants reported, 2 in two dominant FEVR-affected families (PMID 28575650) and 2 in isolated cases. (PMID 28575650 & 28514307)
Created: 17 Aug 2017, 4:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Exudative vitreoretinopathy 7 617572
Publications for gene: CTNNB1 were set to 28575650; 28514307
Source NHS GMS was added to CTNNB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
CTNNB1 was added to Posterior segment abnormalitiespanel. Sources: Literature
CTNNB1 was created by sleigh