Epileptic encephalopathy
Gene: SLC25A22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 3
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 3
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 3
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 3
Publications
Mode of pathogenicity
loss-of-function (truncating variants and curated list of variants)
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: All reviewers agree this gene should be green and would report variants within this gene as part of their current diagnostic practice. Probable DD gene. Mutation consequence summary from G2P: all missense/in frame.Created: 29 Jan 2016, 2:44 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 29 Jan 2016, 2:30 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC25A22 were set to Epileptic encephalopathy, early infantile, 3
Publications for SLC25A22 were set to Molinari et al (2005) Am J Hum Genet 76: 334_339
Mode of inheritance for SLC25A22 was changed to BIALLELIC, autosomal or pseudoautosomal
The Gel status was updated for this whole panel
SLC25A22 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene SLC25A22 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC25A22 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene SLC25A22 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC25A22 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene SLC25A22 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC25A22 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
SLC25A22 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert