Aminoacidopathy
Gene: SLC7A9
SLC7A9 (solute carrier family 7 member 9)
EnsemblGeneIds (GRCh38): ENSG00000021488
EnsemblGeneIds (GRCh37): ENSG00000021488
OMIM: 604144, Gene2Phenotype
SLC7A9 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000021488
EnsemblGeneIds (GRCh37): ENSG00000021488
OMIM: 604144, Gene2Phenotype
SLC7A9 is in 5 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association with reported individuals having errors in amino acid transport and metabolism.
Classified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006202
Sources: ClinGenCreated: 18 Jul 2024, 1:08 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
- 604144
- Clinvar variants
- Variants in SLC7A9
- 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: slc7a9 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: slc7a9 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: SLC7A9 was added gene: SLC7A9 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC7A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A9 were set to 23532419; 16609684; 25296721; 11157794; 10471498 Phenotypes for gene: SLC7A9 were set to cystinuria MONDO:0009067 Review for gene: SLC7A9 was set to GREEN