Monogenic diabetes

Gene: NEUROD1

Green List (high evidence)

NEUROD1 (neuronal differentiation 1)
EnsemblGeneIds (GRCh38): ENSG00000162992
EnsemblGeneIds (GRCh37): ENSG00000162992
OMIM: 601724, Gene2Phenotype
NEUROD1 is in 7 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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: NEUROD1; 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: Diabetes.
Created: 11 Jan 2019, 10:04 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Both as PMID: 26773576 reports a monoallelic variant. Biallelic indicated by expert reviewer.
Created: 7 Jun 2016, 9:20 a.m.
Comment on list classification: Additional evidence provided in more recent papers - PMID: 26773576 NEUROD1 variant identified in a additional family with MODY. PMID: 26669242 report 2 children with MODY had variants in NEUROD1.
Created: 7 Jun 2016, 9:16 a.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Monoallelic mutations have been reported to cause MODY (Malecki et al 1999 Nature Genetics), but the the evidence to support this assertion does not reach that required for the "green list"
Created: 23 Aug 2015, 4:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Maturity-onset diabetes of the young 6, 606394
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6
  • {Diabetes mellitus, noninsulin-dependent}, 125853
  • Maturity-Onset Diabetes Of The Young
  • MODY6
  • Permanent neonatal diabetes and cerebellar agenesis
  • Maturity Onset Diabetes of the Young
OMIM
601724
Clinvar variants
Variants in NEUROD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

11 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NEUROD1.

18 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young for gene: NEUROD1

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NEUROD1 was added gene: NEUROD1 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NEUROD1 were set to 26773576; 10545951; 26669242; 20573748 Phenotypes for gene: NEUROD1 were set to Maturity-onset diabetes of the young 6, 606394; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young; MODY6; Permanent neonatal diabetes and cerebellar agenesis; Maturity Onset Diabetes of the Young