Aminoacidopathy
Gene: SLC25A22EnsemblGeneIds (GRCh38): ENSG00000177542
EnsemblGeneIds (GRCh37): ENSG00000177542
OMIM: 609302, Gene2Phenotype
SLC25A22 is in 10 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association with reported individuals having impaired mitochondrial glutamate transport.
Three unrelated families reported with three different rare missense variants.
Sources: OtherCreated: 19 Jul 2024, 12:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy MONDO:0100062
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Developmental and epileptic encephalopathy MONDO:0100062
- OMIM
- 609302
- Clinvar variants
- Variants in SLC25A22
- 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: slc25a22 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc25a22 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: SLC25A22 was added gene: SLC25A22 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A22 were set to 15592994; 19780765; 24596948 Phenotypes for gene: SLC25A22 were set to Developmental and epileptic encephalopathy MONDO:0100062 Review for gene: SLC25A22 was set to GREEN