Newborns additional phenotypes panel 1
Gene: NEUROD1EnsemblGeneIds (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: 7 Jul 2023, 9:24 a.m. | Last Modified: 7 Jul 2023, 9:24 a.m.
Panel Version: 0.31
https://pubmed.ncbi.nlm.nih.gov/31578821/Created: 7 Jul 2023, 9:24 a.m. | Last Modified: 7 Jul 2023, 9:24 a.m.
Panel Version: 0.31
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Maturity-onset diabetes of the young 6, autosomal dominant
- OMIM
- 601724
- Clinvar variants
- Variants in NEUROD1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NEUROD1 were changed from Maturity-onset diabetes of the young 6 to Maturity-onset diabetes of the young 6, autosomal dominant
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 Green List (high evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: NEUROD1 was added gene: NEUROD1 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: NEUROD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NEUROD1 were set to Maturity-onset diabetes of the young 6