Epileptic encephalopathy
Gene: NRXN1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pitt-Hopkins-like syndrome 2 (AR); severe intellectual disability (AD)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pitt-Hopkins-like syndrome 2 (AR); severe intellectual disability (AD)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pitt-Hopkins-like syndrome 2 (AR); severe intellectual disability (AD)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pitt-Hopkins-like syndrome 2 (AR); severe intellectual disability (AD)
Publications
Variants in this GENE are reported as part of current diagnostic practice
The Gel status was updated for this whole panel
NRXN1 was added to Epileptic encephalopathypanel. Source: Expert Review Red
The Gel status was updated for this whole panel
Model of inheritance for gene NRXN1 was changed to BIALLELIC, autosomal or pseudoautosomal
NRXN1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
NRXN1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert