Retinal disordersGene: ARHGEF18
Comment on list classification: PMID: 28132693 - Reported in 3 individuals from 3 different families - parents verified as heterozygous in two of the families. 5 different variants reported. Previously, knock-out of Arhgef18 in the medaka fish has been shown to cause larval lethality which is preceded by retinal defects that resemble those seen in zebrafish Crumbs complex knock-outs. New disease-gene entry in OMIM. Promoted to green due to this evidence.
Created: 15 Aug 2017, 2:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa 78 617433
Source NHS GMS was added to ARHGEF18. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
ARHGEF18 was created by ellenmcdonagh
ARHGEF18 was added to Posterior segment abnormalitiespanel. Sources: Other