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Genetic Epilepsy

Gene: SLC25A22

Green List (high evidence)

SLC25A22 (solute carrier family 25 member 22)
EnsemblGeneIds (GRCh38): ENSG00000177542
EnsemblGeneIds (GRCh37): ENSG00000177542
OMIM: 609302, Gene2Phenotype
SLC25A22 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Developmental and epileptic encephalopathy-3 (DEE3) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks to months of life. The prognosis is poor, and affected children either may die within 1 to 2 years after birth or survive in a persistent vegetative state. The EEG pattern often shows a suppression-burst pattern with high-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases; these features are reminiscent of a clinical diagnosis of Ohtahara syndrome. Some patients may have hypsarrhythmia on EEG, consistent with a clinical diagnosis of West syndrome.

More than 20 affected individuals reported.
Created: 9 Apr 2022, 7:42 a.m. | Last Modified: 9 Apr 2022, 7:42 a.m.
Panel Version: 0.1549

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 3, MIM# 609304

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Developmental and epileptic encephalopathy 3, MIM# 609304
OMIM
609302
Clinvar variants
Variants in SLC25A22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a22 has been classified as Green List (High Evidence).

9 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC25A22 were changed from to Developmental and epileptic encephalopathy 3, MIM# 609304

9 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC25A22 were set to

9 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC25A22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A22 was added gene: SLC25A22 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC25A22 was set to Unknown