Epileptic encephalopathy
Gene: NRXN1EnsemblGeneIds (GRCh38): ENSG00000179915
EnsemblGeneIds (GRCh37): ENSG00000179915
OMIM: 600565, Gene2Phenotype
NRXN1 is in 4 panels
4 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pitt-Hopkins-like syndrome 2 (AR); severe intellectual disability (AD)
Publications
- Zweier et al (2009) Am J Hum Genet 85: 655_666
- Gregor et al. BMC Medical Genetics 2011, 12.106
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pitt-Hopkins-like syndrome 2 (AR); severe intellectual disability (AD)
Publications
- Zweier et al (2009) Am J Hum Genet 85: 655_666
- Gregor et al. BMC Medical Genetics 2011, 12.106
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pitt-Hopkins-like syndrome 2 (AR); severe intellectual disability (AD)
Publications
- Zweier et al (2009) Am J Hum Genet 85: 655_666
- Gregor et al. BMC Medical Genetics 2011, 12.106
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pitt-Hopkins-like syndrome 2 (AR); severe intellectual disability (AD)
Publications
- Zweier et al (2009) Am J Hum Genet 85: 655 666
- Gregor et al. BMC Medical Genetics 2011, 12.106
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert
- UKGTN
- OMIM
- 600565
- Clinvar variants
- Variants in NRXN1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)NRXN1 was added to Epileptic encephalopathypanel. Source: Expert Review Red
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NRXN1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)NRXN1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)NRXN1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert