Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: SLC4A7EnsemblGeneIds (GRCh38): ENSG00000033867
EnsemblGeneIds (GRCh37): ENSG00000033867
OMIM: 603353, Gene2Phenotype
SLC4A7 is in 2 panels
1 review
Chirag Patel (Genetic Health Queensland)
Total 4 individuals from 3 families (2 known to be from same ethnic origin: Oriental-Jewish) with adult onset retinitis pigmentosa. All individuals had same homozygous frameshift variant in SLC4A7 gene (p.P670Sfs*6). RNA seq analysis revealed retinal expression in human and mouse samples. Immunohistochemistry of human and mouse retina revealed relatively strong expression in various retinal layers. Western blot analysis in fibroblasts from 1 patient showed absence of encoded protein.
Sources: LiteratureCreated: 29 Apr 2024, 10:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, MONDO:0019200
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Retinitis pigmentosa, MONDO:0019200, SLC4A7-related
- OMIM
- 603353
- Clinvar variants
- Variants in SLC4A7
- 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: slc4a7 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC4A7 were changed from Retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa, MONDO:0019200, SLC4A7-related
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: slc4a7 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: SLC4A7 was added gene: SLC4A7 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature Mode of inheritance for gene: SLC4A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A7 were set to PMID: 35486108, 32594822 Phenotypes for gene: SLC4A7 were set to Retinitis pigmentosa, MONDO:0019200 Review for gene: SLC4A7 was set to AMBER