Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: FGFR3

Green List (high evidence)

Green (specific GOF variants in ex7 & 10 only: e.g. P250R, A391E) - Exons 7 and 10 are prescreened in R99. Other GOF variants are associated with other, mainly skeletal, disorders. Truncating/fs variants have not been reported in skeletal phenotypes. ; Review on behalf of Tracy Lester/Andrew Wilkie

Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Muenke syndrome; Crouzon syndrome with acanthosis nigricans

Publications

• 9042914
• 7493034

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FGFR3; Suggested initial gene rating: green

Created: 5 Mar 2019, 11:21 a.m.

Comment on list classification: Current diagnostics

Created: 1 Feb 2016, 11:07 a.m.

Green List (high evidence)

Only p.Pro250Arg and p.Ala391Glu mutations classically associated with craniosynostosis; other gain-of-function mutations in FGFR3 cause skeletal dysplasias (some which may also manifest craniosynostosis)

Created: 14 Sep 2015, 11:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Muenke syndrome; Crouzon syndrome with acanthosis nigricans

Publications

• 9042914
• 7493034

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice