Genetic Epilepsy
Gene: SLC1A2

SLC1A2 (solute carrier family 1 member 2)
EnsemblGeneIds (GRCh38): ENSG00000110436
EnsemblGeneIds (GRCh37): ENSG00000110436
OMIM: 600300, Gene2Phenotype
SLC1A2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Developmental and epileptic encephalopathy-41 (DEE41) is a neurologic disorder characterized by the onset of seizures in the first days or weeks of life. Affected infants show severely impaired psychomotor development with hypotonia, spasticity, lack of speech, poor visual fixation, feeding difficulties sometimes necessitating tube feeding, poor overall growth and microcephaly, and contractures. Brain imaging may show delayed myelination, thin corpus callosum, and cerebral atrophy.

More than 5 unrelated individuals reported, some variants are recurrent, some evidence of dominant-negative mechanism. Multiple mouse models. DEFINITIVE by ClinGen.
Created: 11 May 2022, 8:50 a.m. | Last Modified: 11 May 2022, 8:50 a.m.

Panel Version: 0.1595

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 41, MIM# 617105

Publications

Mode of pathogenicity
Other

Created: 11 May 2022, 8:50 a.m.
Last Modified: 11 May 2022, 8:50 a.m.
Panel version: 0.1595

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Developmental and epileptic encephalopathy 41, MIM# 617105

OMIM

600300

Clinvar variants

Variants in SLC1A2

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene