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Intellectual disability

Gene: NRXN2

Amber List (moderate evidence)

NRXN2 (neurexin 2)
EnsemblGeneIds (GRCh38): ENSG00000110076
EnsemblGeneIds (GRCh37): ENSG00000110076
OMIM: 600566, Gene2Phenotype
NRXN2 is in 4 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Changed from Green to Amber. After internal clinical review- Autism without moderate (or greater) learning difficulty is not a relevant phenotype for this panel. The penetrance is unclear and the evidence to date is from CNVs.
Created: 29 Aug 2018, 2:52 p.m.
Added tag for CNV and autism spectrum
Created: 29 Aug 2018, 2:35 p.m.
Past onto internal clinical team for further review and consideration to downgrade rating.
Created: 8 Aug 2018, 1:36 p.m.
Comment on publications: NRXN2 is specifically associated to ASD (PMID:21424692; 26164757, 29654904). Gauthier and colleagues sequenced all of the exons and splice junctions of NRXN1–3 in 379 subjects affected by ASD, schizophrenia, or non-syndromic intellectual disability (NSID). Two patients with 11q13.1 deletion involving neurexin 2 (NRXN2) have been reported (PMID:21600320, 26164757). Both patients exhibited autistic features, which supported the role of NRXN2 in autism pathogenicity. It is currently unknown whether heterozygous deletion of NRXN2 is of high penetrance or if it is sufficient to result in autism behaviours. More recently PMID: 29654904 Yuan H et al., (2018) reported a third case of a 2-year-9-month old boy with developmental delay, short stature, significant language delay and other congenital anomalies. In contrast to previously reported cases, the boy did not present with autistic behaviors and did not meet the clinical diagnosis of autism. All three patients shared similar deleted intervals and had similar clinical features except for autistic behaviors. This study suggested that NRXN2 gene had incomplete penetrance for autistic behavioral phenotype.
Created: 8 Aug 2018, 12:58 p.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Can't find published evidence
Created: 19 Jun 2018, 3:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
AUTISM

Publications

  • 0

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • autism spectrum disorder
  • intellectual disability
Tags
cnv Autism Spectrum Disorder
OMIM
600566
Clinvar variants
Variants in NRXN2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Aug 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: nrxn2 has been classified as Amber List (Moderate Evidence).

8 Aug 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: NRXN2 were set to 21424692; 26164757; 21600320; 29654904

8 Aug 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: NRXN2 were set to 21424692; 26164757; :21600320; 29654904

8 Aug 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: NRXN2 were set to 21424692; 26164757

8 Aug 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: NRXN2 were set to autism spectrum disorder; intellectual disability

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: 0

Created

Ellen McDonagh (Genomics England Curator)

NRXN2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NRXN2 was added to Intellectual disabilitypanel. Sources: Expert Review Green