DEMO Diabetes neonatal onset
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: Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus.Created: 11 Jan 2019, 4:27 p.m.
We have identified 2 additional patients (in addition to Rubio-Cabezas et al., 2010)Created: 29 May 2017, 8:34 a.m.
Comment when marking as ready: Marked as Ready: 29th May 2017.Created: 29 May 2017, 8:39 a.m.
Comment on list classification: Updated rating from Red to Green: Green expert review, 2 cases reported in Rubio-Cabezas 2010 paper plus 2 additional patients reported for Exeter neonatal diabetes screen.Created: 29 May 2017, 8:39 a.m.
PMID:20573748 (Rubio-Cabezas et al., 2010) identified 2 homozygous frameshift mutations in NEUROD1 (c.427_ 428del and c.364dupG) in 2 patients. Both patients had permanent diabetes diagnosed in the first 2 months of life. In addition to diabetes, they had learning difficulties, severe cerebellar hypoplasia, profound sensorineural deafness, and visual impairment due to severe myopia and retinal dystrophy.Created: 24 Apr 2017, 2:33 p.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by literature (PMID:20573748).Created: 24 Apr 2017, 2:33 p.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.
gene: NEUROD1 was added gene: NEUROD1 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: NEUROD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEUROD1 were set to 20573748 Phenotypes for gene: NEUROD1 were set to Permanent neonatal diabetes and cerebellar agenesis; Maturity-onset diabetes of the young 6, 606394; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus