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Intellectual disability

Gene: NRXN1

Green List (high evidence)

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

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Not sure there is enough evidence for this gene to be green. A de novo 321-kb deletion in the NRXN1 locus was identified in one family after the screening of 100 children with idiopathic ID using a 100 K array-CGH (Friedman et al., 2006).
Created: 8 Aug 2018, 1:23 p.m.

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
AUTISM

Publications

  • 0

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Pitt-Hopkins-like syndrome 2, 614325{Schizophrenia, susceptibility to, 17}, 614332
  • AUTISM
OMIM
600565
Clinvar variants
Variants in NRXN1
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to NRXN1.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

NRXN1 was added to Intellectual disabilitypanel. Source: Expert Review Green Model of inheritance for gene NRXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NRXN1 was added to Intellectual disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NRXN1 was added to Intellectual disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen