Aminoacidopathy
Gene: SLC3A1
SLC3A1 (solute carrier family 3 member 1)
EnsemblGeneIds (GRCh38): ENSG00000138079
EnsemblGeneIds (GRCh37): ENSG00000138079
OMIM: 104614, Gene2Phenotype
SLC3A1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000138079
EnsemblGeneIds (GRCh37): ENSG00000138079
OMIM: 104614, Gene2Phenotype
SLC3A1 is in 5 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association with reported individuals having biochemical abnormalities affecting cystine transportation.
Classified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006188
Sources: ClinGenCreated: 18 Jul 2024, 12:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cystinuria MONDO:0009067
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- cystinuria MONDO:0009067
- OMIM
- 104614
- Clinvar variants
- Variants in SLC3A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
18 Jul 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc3a1 has been classified as Green List (High Evidence).
18 Jul 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc3a1 has been classified as Green List (High Evidence).
18 Jul 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: SLC3A1 was added gene: SLC3A1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC3A1 were set to 8054986; 16374432; 8486766 Phenotypes for gene: SLC3A1 were set to cystinuria MONDO:0009067 Review for gene: SLC3A1 was set to GREEN