Neonatal diabetes
Gene: NEUROG3

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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes; Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS)

Permanent neonatal diabetes mellitus, MONDO:0100164;
Diarrhea 4, malabsorptive, congenital, OMIM:610370
Created: 3 Mar 2021, 2:26 p.m. | Last Modified: 3 Mar 2021, 2:26 p.m.

Panel Version: 2.22

Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: NEUROG3; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS).
Created: 11 Jan 2019, 4:27 p.m.

Created: 11 Jan 2019, 4:27 p.m.

Panel version: 1.13

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Elisa De Franco (University of Exeter Medical School)

A further patient was reported by Rubio-Cabezas et al 2014 Diabetologia.
Created: 29 May 2017, 8:34 a.m.

Publications

25120094

Created: 29 May 2017, 8:34 a.m.

Panel version: 0.130

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as Ready: 29th May 2017.
Created: 29 May 2017, 8:41 a.m.

Comment on list classification: Updated rating from Red to Green: Green expert review plus 3 published cases.
Created: 29 May 2017, 8:41 a.m.

Greeley et al., review (PMID: 21993633) note that 3 patients originally reported with isolated diarrhea due to missense mutations in NEUROG3 (originally reported by Wang et al., 2006, PMID:16855267), later also developed insulin-requiring diabetes by 9 years of age.
Created: 23 May 2017, 3:14 p.m.

Comment on mode of inheritance: Biallelic mode of inheritance supported by literature (PMID:21378176, PMID:21490072).
Created: 25 Apr 2017, 7:57 a.m.

PMID:21490072 (Pinnet et al., 2011) report a proband with neonatal diabetes and congenital malabsorptive diarrhea, with a novel homozygous nonsense mutation (E123X) in NEUROG3.
Created: 25 Apr 2017, 7:57 a.m.

PMID:21378176 (Rubio-Cabezas et al., 2011) identified 2 compound heterozygous point mutations in NEUROG3 in a proband with permanent neonatal diabetes [c.82G>T (p.E28X) and c.404T>C (p.L135P)], each being inherited from an unaffected parent.
Created: 24 Apr 2017, 3:02 p.m.

Created: 23 May 2017, 3:14 p.m.

Panel version: 0.108

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Eligibility statement prior genetic testing
UKGTN

Phenotypes

Permanent neonatal diabetes mellitus, MONDO:0100164
Diarrhea 4, malabsorptive, congenital, OMIM:610370

OMIM

604882

Clinvar variants

Variants in NEUROG3

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NEUROG3 were changed from Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes; Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS) to Permanent neonatal diabetes mellitus, MONDO:0100164; Diarrhea 4, malabsorptive, congenital, OMIM:610370

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NEUROG3 were changed from Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes to Permanent neonatal diabetes and enteric anendocrinosis; congenital malabsorptive diarrhea and neonatal diabetes; Syndromic neonatal diabetes with malabsorptive diarrhea (neurointestinal dysplasia, intrahepatic bilary tract, abnormalities of thyroid gland and CNS)

11 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NEUROG3. Rating Changed from Green List (high evidence) to Green List (high evidence)

31 May 2017, Gel status: 4