Common craniosynostosis syndromes
Gene: FGFR3
Comment on mode of pathogenicity: See review by Tracy Lester on Craniosynostosis panel - specific GOF variants in ex7 & 10 onlyCreated: 6 May 2019, 10:57 a.m.
Comment on phenotypes: Added phenotypes from OMIM after consultation with Genomics England Rare Disease clinical teamCreated: 6 May 2019, 10:45 a.m.
This gene was part of a list taken from the National Genomics Test Directory entry for R99 Common craniosynostosis syndromes. Submitted Gene Symbol: FGFR3. FGFR3 common hot spots are noted in the Test Directory.Created: 2 Apr 2019, 4:05 p.m.
Phenotypes for gene: FGFR3 were changed from Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601 to Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans OMIM:612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601
Phenotypes for gene: FGFR3 were changed from Muenke syndrome 602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I 187600; Thanatophoric dysplasia, type II 187601 to Muenke syndrome OMIM:602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I OMIM:187600; Thanatophoric dysplasia, type II OMIM:187601
Mode of pathogenicity for gene: FGFR3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for gene: FGFR3 were changed from to Muenke syndrome 602849; Crouzon syndrome with acanthosis nigricans 612247; Thanatophoric dysplasia, type I 187600; Thanatophoric dysplasia, type II 187601
gene: FGFR3 was added gene: FGFR3 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown