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Newborns main panel

Gene: NEUROG3

Green List (high evidence)
NEUROG3 (neurogenin 3)
EnsemblGeneIds (GRCh38): ENSG00000122859
EnsemblGeneIds (GRCh37): ENSG00000122859
OMIM: 604882, Gene2Phenotype
NEUROG3 is in 6 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
PMID: 36149814 - 17 cases
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
  • Diarrhoea 4, malabsorptive, congenital
OMIM
604882
Clinvar variants
Variants in NEUROG3
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NEUROG3 were changed from Diarrhea 4, malabsorptive, congenital to Diarrhoea 4, malabsorptive, congenital

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diarrhea 4, malabsorptive, congenital for gene: NEUROG3

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diarrhea 4, malabsorptive, congenital for gene: NEUROG3

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to NEUROG3. Added phenotypes Diarrhea 4, malabsorptive, congenital for gene: NEUROG3 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to NEUROG3. 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 Diarrhea 4, malabsorptive, congenital for gene: NEUROG3

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: NEUROG3 was added gene: NEUROG3 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal