Familial diabetes
Gene: NEUROD1
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
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NEUROD1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for NEUROD1 were set to 26773576; 10545951; 20573748; 26669242
This gene has been classified as Green List (High Evidence).
Publications for NEUROD1 were set to 26773576; 10545951; 20573748
NEUROD1 was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen
NEUROD1 was added to Familial diabetespanel. Sources: UKGTN
NEUROD1 was added to Familial diabetespanel. Sources: Illumina TruGenome Clinical Sequencing Services