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Mendeliome

Gene: SLC7A14

Red List (low evidence)

SLC7A14 (solute carrier family 7 member 14)
EnsemblGeneIds (GRCh38): ENSG00000013293
EnsemblGeneIds (GRCh37): ENSG00000013293
OMIM: 615720, Gene2Phenotype
SLC7A14 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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: 26 Sep 2020, 7:32 a.m. | Last Modified: 26 Sep 2020, 7:32 a.m.
Panel Version: 0.4586

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 68, MIM# MIM#615725

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 68, MIM# MIM#615725
Tags
disputed
OMIM
615720
Clinvar variants
Variants in SLC7A14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc7a14 has been classified as Red List (Low Evidence).

26 Sep 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC7A14 were changed from to Retinitis pigmentosa 68, MIM# MIM#615725

26 Sep 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC7A14 were set to

26 Sep 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC7A14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

26 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc7a14 has been classified as Red List (Low Evidence).

26 Sep 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: SLC7A14.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC7A14 was added gene: SLC7A14 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC7A14 was set to Unknown