Epileptic encephalopathy
Gene: SPTAN1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 5
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
This gene has been classified as Green List (High Evidence).
Phenotypes for SPTAN1 were set to Epileptic encephalopathy, early infantile, 5
Publications for SPTAN1 were set to Saitsu et al (2010) Am J Hum Genet 86: 881_891
Mode of inheritance for SPTAN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
SPTAN1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene SPTAN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SPTAN1 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene SPTAN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SPTAN1 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene SPTAN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SPTAN1 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert
SPTAN1 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert