Retinal disorders
Gene: SLC37A3
Comment on list classification: As reviewed by Siying Lin, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.Created: 17 Apr 2024, 8:26 p.m. | Last Modified: 17 Apr 2024, 8:26 p.m.
Panel Version: 4.89
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
retinitis pigmentosa, MONDO:0019200
An additional 2 families (one extended Egyptian Jewish family and one British family) reported by Millo et al, homozygous for 2 additional pLOF variants in this geneCreated: 9 Mar 2024, 5:03 p.m. | Last Modified: 9 Mar 2024, 5:03 p.m.
Panel Version: 4.81
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa
Publications
Mode of pathogenicity
Other
in carss et al 2017 as one of the biallelic LOF genes - not really enough to include. But this may be a real oneCreated: 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.
Phenotypes
Retinitis pigmentosa
Publications
Tag Q2_24_NHS_review tag was added to gene: SLC37A3.
Gene: slc37a3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SLC37A3 were changed from Retinitis pigmentosa; No OMIM entry to retinitis pigmentosa, MONDO:0019200
Publications for gene: SLC37A3 were set to 28041643
Tag Q2_24_promote_green tag was added to gene: SLC37A3.
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