Research panel - Severe Paediatric Disorders
Gene: NRXN3

NRXN3 (neurexin 3)
EnsemblGeneIds (GRCh38): ENSG00000021645
EnsemblGeneIds (GRCh37): ENSG00000021645
OMIM: 600567, Gene2Phenotype
NRXN3 is in 2 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NRXN3; Recommended initial gene rating: Red List (low evidence); Phenotypes: Spinocerebellar ataxia 4, kidney papillary necrosis, IBD, recurrent sinopulmolnary infections, NFAT5 haploinsufficieny; Mode of inheritance:
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:28 p.m.
Last Modified: 20 Feb 2020, 5:28 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Next Generation Children Project
Expert Review Red
Expert list

Phenotypes

Spinocerebellar ataxia 4, kidney papillary necrosis, IBD, recurrent sinopulmolnary infections, NFAT5 haploinsufficieny

OMIM

600567

Clinvar variants

Variants in NRXN3

Penetrance

None

Publications

30847515

Panels with this gene