Aminoacidopathy
Gene: SLC1A2EnsemblGeneIds (GRCh38): ENSG00000110436
EnsemblGeneIds (GRCh37): ENSG00000110436
OMIM: 600300, Gene2Phenotype
SLC1A2 is in 6 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Reported variants in 6 unrelated probands. The mechanism of disease is heterozygous dominant negative.
Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/10/2020
https://search.clinicalgenome.org/CCID:006153
Sources: ClinGenCreated: 9 Jul 2024, 6:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
developmental and epileptic encephalopathy, 41 MONDO:0014916
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- developmental and epileptic encephalopathy, 41 MONDO:0014916
- OMIM
- 600300
- Clinvar variants
- Variants in SLC1A2
- 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: slc1a2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc1a2 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: SLC1A2 was added gene: SLC1A2 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC1A2 were set to 23934111; 27476654; 28777935; 30937933 Phenotypes for gene: SLC1A2 were set to developmental and epileptic encephalopathy, 41 MONDO:0014916 Review for gene: SLC1A2 was set to GREEN