Monogenic diabetes
Gene: NEUROD1
Comment on phenotypes: Previous 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 YoungCreated: 16 Mar 2021, 2:11 p.m. | Last Modified: 16 Mar 2021, 2:11 p.m.
Panel Version: 2.25
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.
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.
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
Phenotypes for gene: NEUROD1 were changed from 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 to Maturity-onset diabetes of the young 6, OMIM:606394; {Type 2 diabetes mellitus, susceptibility to}, OMIM:125853
Ivone Leong: Initial gene list and info col
Source NHS GMS was added to NEUROD1.
Added phenotypes {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young for gene: NEUROD1
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