Retinal disordersGene: SLC37A3
in carss et al 2017 as one of the biallelic LOF genes - not really enough to include. But this may be a real one
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Comment on list classification: Promoted from red to amber. There is only one case (PMID: 28041643), therefore, there is currently not enough evidence to promote this gene to green status.
Created: 3 Apr 2019, 1:41 p.m.
Candidate IRD-associated gene from publication PMID:28041643. Gene containing _2 predicted protein-truncating alleles (High impact), including SVs that are likely to be biallelic. Genomic coordinates refer to genome build GRCh37.
Created: 17 Jan 2017, 5:13 p.m.
Source NHS GMS was added to SLC37A3.
Mode of inheritance for gene: SLC37A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: slc37a3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SLC37A3 were changed from Retinitis pigmentosa to Retinitis pigmentosa; No OMIM entry
SLC37A3 was added to Posterior segment abnormalitiespanel. Sources: Literature
SLC37A3 was created by LouiseD