Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: SLC37A3EnsemblGeneIds (GRCh38): ENSG00000157800
EnsemblGeneIds (GRCh37): ENSG00000157800
SLC37A3 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated cases reported with biallelic variants in SLC37A3 gene (One case in PMID:28041643 and two cases in PMID:35486108) and with autosomal recessive retinitis pigmentosa.
Sources: LiteratureCreated: 19 Apr 2024, 4:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, MONDO:0019200, SLC37A3-related
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Retinitis pigmentosa, MONDO:0019200, SLC37A3-related
- Clinvar variants
- Variants in SLC37A3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc37a3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc37a3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC37A3 was added gene: SLC37A3 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature Mode of inheritance for gene: SLC37A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC37A3 were set to 28041643; 35486108 Phenotypes for gene: SLC37A3 were set to Retinitis pigmentosa, MONDO:0019200, SLC37A3-related Review for gene: SLC37A3 was set to GREEN