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DDG2P

Gene: NOTCH3

Red List (low evidence)

NOTCH3 (notch 3)
EnsemblGeneIds (GRCh38): ENSG00000074181
EnsemblGeneIds (GRCh37): ENSG00000074181
OMIM: 600276, Gene2Phenotype
NOTCH3 is in 14 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease INFANTILE MYOFIBROMATOSIS, OMIM:615293 is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:23731542).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
INFANTILE MYOFIBROMATOSIS, OMIM:615293

Publications

Mode of pathogenicity
Other

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: activating
Created: 19 Nov 2018, 11:30 a.m.

History Filter Activity

4 Oct 2023, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene NOTCH3 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: NOTCH3 was added gene: NOTCH3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH3 were set to 23731542 Phenotypes for gene: NOTCH3 were set to INFANTILE MYOFIBROMATOSIS 615293 Mode of pathogenicity for gene: NOTCH3 was set to Other - please provide details in the comments