Gastrointestinal neuromuscular disease
Gene: NRG1EnsemblGeneIds (GRCh38): ENSG00000157168
EnsemblGeneIds (GRCh37): ENSG00000157168
OMIM: 142445, Gene2Phenotype
NRG1 is in 5 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Has been reported as a Hirschsprung disease susceptibility loci, with common, low-penetrance polymorphisms that contribute only partially to risk and can act as genetic modifiers. There are also two publications with rare variants reported in this gene (at least one de novo) and supporting in vitro functional assays. A null zebrafish model was also supportive of a role in Hirschsprung disease.
Sources: Expert listCreated: 3 Jul 2020, 4:50 a.m. | Last Modified: 3 Jul 2020, 4:52 a.m.
Panel Version: 0.17
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hirschsprung disease
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Hirschsprung disease
- OMIM
- 142445
- Clinvar variants
- Variants in NRG1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nrg1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nrg1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NRG1 was added gene: NRG1 was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: NRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NRG1 were set to 22574178; 21706185; 28190554 Phenotypes for gene: NRG1 were set to Hirschsprung disease Review for gene: NRG1 was set to AMBER