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Retinal disorders

Gene: SLC37A3

Amber List (moderate evidence)

SLC37A3 (solute carrier family 37 member 3)
EnsemblGeneIds (GRCh38): ENSG00000157800
EnsemblGeneIds (GRCh37): ENSG00000157800
SLC37A3 is in 1 panel

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

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

Ivone Leong (Genomics England Curator)

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.

Louise Daugherty (Genomics England Curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa
  • No OMIM entry
Clinvar variants
Variants in SLC37A3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 2

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC37A3.

3 Apr 2019, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: SLC37A3 was changed from to BIALLELIC, autosomal or pseudoautosomal

3 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: slc37a3 has been classified as Amber List (Moderate Evidence).

3 Apr 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SLC37A3 were changed from Retinitis pigmentosa to Retinitis pigmentosa; No OMIM entry

17 Jan 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

SLC37A3 was added to Posterior segment abnormalitiespanel. Sources: Literature

17 Jan 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SLC37A3 was created by LouiseD