Familial diabetes

Gene: NEUROD1

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.

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.

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

• 10545951
• 20573748

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