Hydrocephalus
Gene: FGFR3EnsemblGeneIds (GRCh38): ENSG00000068078
EnsemblGeneIds (GRCh37): ENSG00000068078
OMIM: 134934, Gene2Phenotype
FGFR3 is in 24 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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 GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
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 dilatationCreated: 9 May 2017, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Achondroplasia; Thanatophoric dysplasia 187600
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Achondroplasia, OMIM:100800
- Thanatophoric dysplasia, OMIM:187600
- Crouzon syndrome with acanthosis nigricans, OMIM:612247
- Muenke syndrome, OMIM:602849
- OMIM
- 134934
- Clinvar variants
- Variants in FGFR3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Radial dysplasia
- Intellectual disability
- VACTERL-like phenotypes
- Limb disorders
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- DDG2P
- Insulin resistance (including lipodystrophy)
- Clefting
- Monogenic short stature
- Common craniosynostosis syndromes
- Choanal atresia
- Osteogenesis imperfecta
- Thanatophoric dysplasia
- Hydrocephalus
- Monogenic diabetes
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FGFR3 were changed from Achondroplasia 100800; Thanatophoric dysplasia 187600; Crouzon syndrome with acanthosis nigricans 612247; Muenke syndrome 602849 to Achondroplasia, OMIM:100800; Thanatophoric dysplasia, OMIM:187600; Crouzon syndrome with acanthosis nigricans, OMIM:612247; Muenke syndrome, OMIM:602849
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FGFR3.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for FGFR3 were set to Achondroplasia 100800; Thanatophoric dysplasia 187600; Crouzon syndrome with acanthosis nigricans 612247; Muenke syndrome 602849
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR3 was added to Hydrocephaluspanel. Source: Expert Review Green
Added New Source
Helen Brittain (Genomics England Curator)FGFR3 was added to Hydrocephaluspanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)FGFR3 was created by helen.brittain