Coarse facial features including Coffin-Siris-like disorders

Gene: NOTCH2

Red List (low evidence)

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

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

29 Jan 2016, Gel status: 0

Added New Source

Alice Gardham (North West Thames Genetics)

NOTCH2 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN