This Panel is marked as Internal
Intellectual disability update Jan 2018
Gene: NRXN3
NRXN3 (neurexin 3)
EnsemblGeneIds (GRCh38): ENSG00000021645
EnsemblGeneIds (GRCh37): ENSG00000021645
OMIM: 600567, Gene2Phenotype
NRXN3 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000021645
EnsemblGeneIds (GRCh37): ENSG00000021645
OMIM: 600567, Gene2Phenotype
NRXN3 is in 2 panels
1 review
Louise Daugherty (Genomics England Curator)
added micodeletion tagCreated: 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 phenotypeCreated: 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 AutismCreated: 27 Feb 2018, 1:25 p.m.
Details
- Sources
-
- Expert Review Red
- Phenotypes
-
- Autism spectrum disorder
- Tags
- OMIM
- 600567
- Clinvar variants
- Variants in NRXN3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
27 Feb 2018, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for NRXN3 were set to Autism spectrum disorder
27 Feb 2018, Gel status: 1
Set publications
Louise Daugherty (Genomics England Curator)Publications for NRXN3 were set to 22209245
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NRXN3 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)NRXN3 was created by Ellen McDonagh