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Epileptic encephalopathy

Gene: NRXN1

Red List (low evidence)

NRXN1 (neurexin 1)
EnsemblGeneIds (GRCh38): ENSG00000179915
EnsemblGeneIds (GRCh37): ENSG00000179915
OMIM: 600565, Gene2Phenotype
NRXN1 is in 5 panels

4 reviews

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

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)

Red List (low evidence)

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)

Red List (low evidence)

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)

Red List (low evidence)

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

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NRXN1 was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NRXN1 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NRXN1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NRXN1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert