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  3. NEUROD1
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Maturity-onset Diabetes of the Young

Gene: NEUROD1

Green List (high evidence)
NEUROD1 (neuronal differentiation 1)
EnsemblGeneIds (GRCh38): ENSG00000162992
EnsemblGeneIds (GRCh37): ENSG00000162992
OMIM: 601724, Gene2Phenotype
NEUROD1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic variants in this gene are associated with MODY.

Rare reports of bi-allelic variants, sometimes with permanent neonatal diabetes, RP/retinopathy reported in three unrelated individuals. Functional data to support gene's role in retina.
Created: 12 Oct 2020, 2:20 a.m. | Last Modified: 12 Oct 2020, 2:20 a.m.
Panel Version: 0.4882

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Maturity-onset diabetes of the young 6, MIM#606394; Retinitis pigmentosa, retinopathy, permanent neonatal diabetes

Publications

Created: 12 Oct 2020, 2:20 a.m.
Last Modified: 12 Oct 2020, 2:20 a.m.
Panel version: Imported from Mendeliome panel version 0.4882

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity Onset Diabetes of the Young
  • {Diabetes mellitus, noninsulin-dependent}, 125853
OMIM
601724
Clinvar variants
Variants in NEUROD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: neurod1 has been classified as Green List (High Evidence).

22 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: NEUROD1 were set to

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NEUROD1 was added gene: NEUROD1 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: NEUROD1 were set to Maturity Onset Diabetes of the Young; {Diabetes mellitus, noninsulin-dependent}, 125853