Common craniosynostosis syndromes
Gene: FGFR1
Comment on mode of pathogenicity: From reviews on the Craniosynostosis panel - a very limited number of gain of function mutations are associated with craniosynostosisCreated: 6 May 2019, 10:49 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: FGFR1. FGFR1 common hot spots are noted in the Test Directory.Created: 2 Apr 2019, 4:05 p.m.
Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600 to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600; Trigonocephaly 1 OMIM:190440
Phenotypes for gene: FGFR1 were changed from Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome to Jackson-Weiss syndrome OMIM:123150; Osteoglophonic dysplasia OMIM:166250; Pfeiffer syndrome OMIM:101600
Mode of pathogenicity for gene: FGFR1 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: FGFR1 were changed from to Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome
gene: FGFR1 was added gene: FGFR1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown