Aminoacidopathy
Gene: SLC7A5
SLC7A5 (solute carrier family 7 member 5)
EnsemblGeneIds (GRCh38): ENSG00000103257
EnsemblGeneIds (GRCh37): ENSG00000103257
OMIM: 600182, Gene2Phenotype
SLC7A5 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000103257
EnsemblGeneIds (GRCh37): ENSG00000103257
OMIM: 600182, Gene2Phenotype
SLC7A5 is in 2 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified an inborn error of amino acid metabolism by IEMbase however more evidence is required to support the gene-disease association.
Sources: OtherCreated: 18 Jul 2024, 11:19 p.m.
Mode of inheritance
Unknown
Phenotypes
Large neutral amino acid transporter deficiency (MIM#600182)
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Large neutral amino acid transporter deficiency (MIM#600182)
- OMIM
- 600182
- Clinvar variants
- Variants in SLC7A5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
19 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc7a5 has been classified as Red List (Low Evidence).
19 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc7a5 has been classified as Red List (Low Evidence).
18 Jul 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: SLC7A5 was added gene: SLC7A5 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: SLC7A5 was set to Unknown Publications for gene: SLC7A5 were set to 29884839 Phenotypes for gene: SLC7A5 were set to Large neutral amino acid transporter deficiency (MIM#600182) Review for gene: SLC7A5 was set to RED