As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Clear evidence for causation (NOTCH2 and Hajdu-Cheney syndrome). However, hydrocephalus found in one case. This presents as a skeletal dysplasia with coarse features (green on unexplained skeletal dysplasia panel)
Created: 9 May 2017, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to NOTCH2.
31.05.2017 - panel revised after internal curation and clinical review.
NOTCH2 was added to Hydrocephaluspanel. Source: Expert Review Red
NOTCH2 was added to Hydrocephaluspanel. Sources: Literature
NOTCH2 was created by helen.brittain