Aminoacidopathy
Gene: SLC38A8EnsemblGeneIds (GRCh38): ENSG00000166558
EnsemblGeneIds (GRCh37): ENSG00000166558
OMIM: 615585, Gene2Phenotype
SLC38A8 is in 7 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Reported in >5 unrelated probands with reported errors in glutamate/glutamine transport.
Classified Definitive by Aminoacidopathy GCEP on 10/02/2023 - https://search.clinicalgenome.org/CCID:006184
Sources: ClinGenCreated: 18 Jul 2024, 12:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216
- OMIM
- 615585
- Clinvar variants
- Variants in SLC38A8
- 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: slc38a8 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc38a8 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: SLC38A8 was added gene: SLC38A8 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC38A8 were set to 32744312; 24290379; 24045842; 25451601; 24290379 Phenotypes for gene: SLC38A8 were set to foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 Review for gene: SLC38A8 was set to GREEN