Intestinal failure or congenital diarrhoea
Gene: NEUROG3

NEUROG3 (neurogenin 3)
EnsemblGeneIds (GRCh38): ENSG00000122859
EnsemblGeneIds (GRCh37): ENSG00000122859
OMIM: 604882, Gene2Phenotype
NEUROG3 is in 6 panels

3 reviews

Eleanor Williams (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.

Panel Version: 1.48

Created: 8 Mar 2022, 11:44 a.m.
Last Modified: 8 Mar 2022, 11:44 a.m.
Panel version: 1.48

Ivone Leong (Genomics England Curator)

Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 12 Apr 2021, 12:13 p.m. | Last Modified: 12 Apr 2021, 12:13 p.m.

Panel Version: 1.30

Created: 12 Apr 2021, 12:13 p.m.
Last Modified: 12 Apr 2021, 12:13 p.m.
Panel version: 1.30

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Multiple families reported with malabsorptive diarrhoea +/- neonatal diabetes.
Sources: Expert Review
Created: 5 Jan 2021, 1:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diarrhoea 4, malabsorptive, congenital, MIM# 610370

Publications

Created: 5 Jan 2021, 1:51 a.m.

Panel version: 1.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Diarrhoea 4, malabsorptive, congenital, OMIM:610370

OMIM

604882

Clinvar variants

Variants in NEUROG3

Penetrance

None

Publications

Panels with this gene