Coarse facial features including Coffin-Siris-like disordersGene: NOTCH2
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
Hajdu-Cheney syndrome/ acroosteolysis with osteoporosis and changes in the skull and mandible/ serpentine fibula-polycystic kidney syndrome, 102500
Mode of pathogenicity
This proposed gene was validated and added to this panel
NOTCH2 was created by alicegardham
NOTCH2 was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN