Aminoacidopathy
Gene: SLC1A1
SLC1A1 (solute carrier family 1 member 1)
EnsemblGeneIds (GRCh38): ENSG00000106688
EnsemblGeneIds (GRCh37): ENSG00000106688
OMIM: 133550, Gene2Phenotype
SLC1A1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000106688
EnsemblGeneIds (GRCh37): ENSG00000106688
OMIM: 133550, Gene2Phenotype
SLC1A1 is in 5 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Reported in 2 unrelated probands along with a mouse knockout model recapitulating human phenotype.
Classified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022
https://search.clinicalgenome.org/CCID:006152
Sources: ClinGenCreated: 9 Jul 2024, 6:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
dicarboxylic aminoaciduria MONDO:0009110
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- dicarboxylic aminoaciduria MONDO:0009110
- OMIM
- 133550
- Clinvar variants
- Variants in SLC1A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
14 Jul 2024, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc1a1 has been classified as Amber List (Moderate Evidence).
14 Jul 2024, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc1a1 has been classified as Amber List (Moderate Evidence).
9 Jul 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: SLC1A1 was added gene: SLC1A1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A1 were set to 21123949 Phenotypes for gene: SLC1A1 were set to dicarboxylic aminoaciduria MONDO:0009110 Review for gene: SLC1A1 was set to AMBER