SLC25A22 Chromosome 11
Solute carrier family 25 member 22
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What This Gene Does
This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000177542
Associated Conditions (11)
Early myoclonic encephalopathy
Inborn genetic diseases
SLC25A22-related disorder
Early-infantile DEE
Developmental and epileptic encephalopathy
3
Uterine corpus endometrial carcinoma
Cervical cancer
Lung cancer
Developmental delay
Macrocephaly
Key Variants
RS116134953
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Inborn genetic diseases, SLC25A22-related disorder
Health Risk
RS141430143
Conflicting classifications of pathogenicity
Inborn genetic diseases, SLC25A22-related disorder, Early-infantile DEE
Health Risk
RS141975755
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Early myoclonic encephalopathy
Health Risk
RS142220309
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 3, Inborn genetic diseases
Health Risk
RS145322467
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Developmental and epileptic encephalopathy, 3
Health Risk
RS146300431
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Inborn genetic diseases, Developmental and epileptic encephalopathy
Health Risk
RS146402942
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Inborn genetic diseases, SLC25A22-related disorder
Health Risk
RS147840220
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Inborn genetic diseases, SLC25A22-related disorder
Health Risk
RS1864648097
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS187824231
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS199887745
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS200072903
Conflicting classifications of pathogenicity
Early myoclonic encephalopathy, Inborn genetic diseases, Early-infantile DEE
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781132225 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS796053238 | Health Risk | Pathogenic | — |
| RS797045969 | Health Risk | Pathogenic | Early myoclonic encephalopathy, Early-infantile DEE, Early myoclonic encephalopathy |
| RS936639741 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 3, Early-infantile DEE |
| RS121918334 | Health Risk | Pathogenic/Likely pathogenic | Early myoclonic encephalopathy, Developmental and epileptic encephalopathy, 3 |
| RS1554965669 | Health Risk | Pathogenic/Likely pathogenic | Early myoclonic encephalopathy, Early-infantile DEE, Early myoclonic encephalopathy |