Gastrointestinal neuromuscular disease
Gene: NRG3
NRG3 (neuregulin 3)
EnsemblGeneIds (GRCh38): ENSG00000185737
EnsemblGeneIds (GRCh37): ENSG00000185737
OMIM: 605533, Gene2Phenotype
NRG3 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000185737
EnsemblGeneIds (GRCh37): ENSG00000185737
OMIM: 605533, Gene2Phenotype
NRG3 is in 1 panel
1 review
Bryony Thompson (Royal Melbourne Hospital)
Single Chinese mother and son reported, and some sporadic cases that appear to have recurrent variants that may be polymorphisms. No functional evidence.
Sources: Expert listCreated: 3 Jul 2020, 5:16 a.m.
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 Red
- Expert list
- Phenotypes
-
- Hirschsprung disease
- OMIM
- 605533
- Clinvar variants
- Variants in NRG3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Jul 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nrg3 has been classified as Red List (Low Evidence).
3 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NRG3 was added gene: NRG3 was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: NRG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NRG3 were set to 23315268 Phenotypes for gene: NRG3 were set to Hirschsprung disease Review for gene: NRG3 was set to RED