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
In addition; thanatophoric dysplasia is of prenatal interest. Mutational spectrum restricted: Three missense mutations (Y373C, R248C, S249C) accounted for 73% of the cases. Two stop codon mutations (X807R, X807C) and 1 rare G370C mutation were also found.
Created: 25 May 2017, 2:27 p.m.
Clear causation. Few recurrent mutations seen. Megalencephaly highly likely, some with hydrocephalus and ventricular dilatation
Created: 9 May 2017, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Achondroplasia; Thanatophoric dysplasia 187600
Source NHS GMS was added to FGFR3.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
Phenotypes for FGFR3 were set to Achondroplasia 100800; Thanatophoric dysplasia 187600; Crouzon syndrome with acanthosis nigricans 612247; Muenke syndrome 602849
FGFR3 was added to Hydrocephaluspanel. Source: Expert Review Green
FGFR3 was added to Hydrocephaluspanel. Sources: Literature
FGFR3 was created by helen.brittain