As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Causation clear. Ventricular dilatation is commonly seen. Often presents via craniofacial and limb appearance however.
Created: 9 May 2017, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Apert syndrome; Crouzon syndrome
Phenotypes for gene: FGFR2 were changed from Apert syndrome; Crouzon syndrome to Apert syndrome, OMIM:101200; Crouzon syndrome, OMIM:123500
Source NHS GMS was added to FGFR2.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
FGFR2 was added to Hydrocephaluspanel. Source: Expert Review Green
FGFR2 was added to Hydrocephaluspanel. Sources: Literature
FGFR2 was created by helen.brittain