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Intellectual disability

Gene: NRXN3

Red List (low evidence)

NRXN3 (neurexin 3)
EnsemblGeneIds (GRCh38): ENSG00000021645
EnsemblGeneIds (GRCh37): ENSG00000021645
OMIM: 600567, Gene2Phenotype
NRXN3 is in 3 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on publications: new publication Yuan H et al. (2018) PMID: 30076746 reported a rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family. The proband, a 7-year-old boy, presented with motor and language delay and met the clinical diagnostic criteria for autism. He also presented with moderate intellectual disability, attention-deficit hyperactivity disorder and facial dysmorphic features.
Created: 8 Aug 2018, 12:41 p.m.
added micodeletion tag
Created: 27 Feb 2018, 1:32 p.m.
Comment on phenotypes: added phenotype from G2P and publication PMID:22209245. Although NRXN1 and NRXN2 have been associated to intellectual disability (the three members of the human neurexin gene family NRXN1, NRXN2, NRXN3 encode neuronal adhesion proteins that have important roles in synapse development and function), there is no evidence to date to suggest NRXN3 variants cause a intellectual disability phenotype
Created: 27 Feb 2018, 1:29 p.m.
Comment on publications: added publication to support autism spectrum disorder (ASD)
Created: 27 Feb 2018, 1:29 p.m.
This is a possible DD gene in Gene2Phenotype for Autism
Created: 27 Feb 2018, 1:25 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
AUTISM

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Autism spectrum disorder
Tags
microdeletion
OMIM
600567
Clinvar variants
Variants in NRXN3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Aug 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: NRXN3 were set to 22209245; 30076746

12 Mar 2018, Gel status: 1

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: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

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)

NRXN3 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NRXN3 was added to Intellectual disabilitypanel. Sources: Expert Review Red