Common craniosynostosis syndromes
Gene: FGFR3EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels
1 review
Eleanor Williams (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert list
- Expert Review Green
- Phenotypes
-
- Muenke syndrome OMIM:602849
- Crouzon syndrome with acanthosis nigricans OMIM:612247
- Thanatophoric dysplasia, type I OMIM:187600
- Thanatophoric dysplasia, type II OMIM:187601
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Radial dysplasia
- Monogenic diabetes
- VACTERL-like phenotypes
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Monogenic short stature
- Common craniosynostosis syndromes
- Choanal atresia
- Osteogenesis imperfecta
- Clefting
- Thanatophoric dysplasia
- Hydrocephalus
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Set mode of pathogenicity
Eleanor Williams (Genomics England Curator)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
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)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