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Newborns main panel

Gene: NEUROD1

Green List (high evidence)
NEUROD1 (neuronal differentiation 1)
EnsemblGeneIds (GRCh38): ENSG00000162992
EnsemblGeneIds (GRCh37): ENSG00000162992
OMIM: 601724, Gene2Phenotype
NEUROD1 is in 8 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/31578821/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • NEUROD1 related autosomal recessive neonatal diabetes
OMIM
601724
Clinvar variants
Variants in NEUROD1
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NEUROD1 were changed from NEUROD1 related autosomal recessive neonatal diabetes to NEUROD1 related autosomal recessive neonatal diabetes

6 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NEUROD1 were changed from Maturity-onset diabetes of the young 6 to NEUROD1 related autosomal recessive neonatal diabetes

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maturity-onset diabetes of the young 6 for gene: NEUROD1

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to NEUROD1. Mode of inheritance for gene NEUROD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Maturity-onset diabetes of the young 6 for gene: NEUROD1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to NEUROD1. Added phenotypes Maturity-onset diabetes of the young 6 for gene: NEUROD1 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to NEUROD1. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maturity-onset diabetes of the young 6 for gene: NEUROD1

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: NEUROD1 was added gene: NEUROD1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal