Coarse facial features including Coffin-Siris-like disorders
Gene: NOTCH2

NOTCH2 (notch 2)
EnsemblGeneIds (GRCh38): ENSG00000134250
EnsemblGeneIds (GRCh37): ENSG00000134250
OMIM: 600275, Gene2Phenotype
NOTCH2 is in 14 panels

1 review

Alice Gardham (North West Thames Genetics)

Green List (high evidence)

Gain of function mutations leading to persistent Notch intracellular signal.
Created: 31 Jan 2016, 1:40 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hajdu-Cheney syndrome/ acroosteolysis with osteoporosis and changes in the skull and mandible/ serpentine fibula-polycystic kidney syndrome, 102500

Publications

Mode of pathogenicity
Other

Created: 31 Jan 2016, 1:40 p.m.

Panel version: 0.21

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Phenotypes

Hajdu Cheney

OMIM

600275

Clinvar variants

Variants in NOTCH2

Penetrance

Complete

Panels with this gene

History Filter Activity

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

29 Jan 2016, Gel status: 0

Created

Alice Gardham (North West Thames Genetics)

NOTCH2 was created by alicegardham