Diabetes - neonatal onset

Gene: NEUROD1

Green List (high evidence)

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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Previous phenotypes:
Permanent neonatal diabetes and cerebellar agenesis;Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus;Maturity-onset diabetes of the young 6, 606394
Created: 3 Mar 2021, 2:22 p.m. | Last Modified: 3 Mar 2021, 2:22 p.m.
Panel Version: 2.21
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.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Elisa De Franco (University of Exeter Medical School)

We have identified 2 additional patients (in addition to Rubio-Cabezas et al., 2010)
Created: 29 May 2017, 8:34 a.m.

Rebecca Foulger (Genomics England curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, MONDO:0012192
  • Maturity-onset diabetes of the young 6, OMIM:606394
  • Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus
OMIM
601724
Clinvar variants
Variants in NEUROD1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NEUROD1 were changed from Permanent neonatal diabetes and cerebellar agenesis; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus; Maturity-onset diabetes of the young 6, 606394 to permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, MONDO:0012192; Maturity-onset diabetes of the young 6, OMIM:606394; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NEUROD1 were changed from Permanent neonatal diabetes and cerebellar agenesis to Permanent neonatal diabetes and cerebellar agenesis; Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus; Maturity-onset diabetes of the young 6, 606394

11 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NEUROD1. Rating Changed from Green List (high evidence) to Green List (high evidence)

31 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.

29 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

29 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

24 Apr 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for NEUROD1 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Apr 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for NEUROD1 were set to 20573748

17 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NEUROD1 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing

17 Aug 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NEUROD1 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NEUROD1 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN