Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: SLC7A14EnsemblGeneIds (GRCh38): ENSG00000013293
EnsemblGeneIds (GRCh37): ENSG00000013293
OMIM: 615720, Gene2Phenotype
SLC7A14 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: The animal models are compelling, but there currently is limited evidence in humans.Created: 7 Feb 2020, 10:02 p.m. | Last Modified: 7 Feb 2020, 10:02 p.m.
Panel Version: 0.15
In the original publication from 2014 (PMID: 24670872), it was reported that SLC7A14 accounted for 2% of cases of arRP. This is likely because two of the variants identified are too common in the east asian population (gnomAD: Cys464Phe - 0.013, 4 homozygotes; Gly330Arg - 0.023, 7 homozygotes) to cause rare disease. Five homozygous or compound het cases were reported, all of which had at least one of these two variants. The animal models are compelling. Downregulation of slc7a14 expression in zebrafish leads to an abnormal eye phenotype and defective light-induced locomotor response, and targeted knockout of Slc7a14 in mice results in retinal degeneration with abnormal ERG response. However, there has not been any more reported RP cases that do not include the two common variants above.Created: 7 Feb 2020, 10:01 p.m. | Last Modified: 7 Feb 2020, 10:01 p.m.
Panel Version: 0.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 68 MIM#615725
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Retinitis pigmentosa 68, 615725 (3)
- Tags
- OMIM
- 615720
- Clinvar variants
- Variants in SLC7A14
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: SLC7A14.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc7a14 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: slc7a14 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SLC7A14 was added gene: SLC7A14 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: SLC7A14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A14 were set to 27028480; 24670872 Phenotypes for gene: SLC7A14 were set to Retinitis pigmentosa 68, 615725 (3)