Retinal disorders

Gene: SLC37A3

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 3:50 p.m. | Last Modified: 26 Sep 2024, 3:50 p.m.

Panel Version: 6.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

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

Green List (high evidence)

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 gene

Created: 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

• 35486108

Mode of pathogenicity
Other

Green List (high evidence)

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.

Red List (low evidence)

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

• 28041643