Hydrocephalus
Gene: FGFR2EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 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)
Causation clear. Ventricular dilatation is commonly seen. Often presents via craniofacial and limb appearance however.Created: 9 May 2017, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Apert syndrome; Crouzon syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Apert syndrome, OMIM:101200
- Crouzon syndrome, OMIM:123500
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Differences in sex development
- Clefting
- Likely inborn error of metabolism
- Arthrogryposis
- Fetal anomalies
- Radial dysplasia
- Multiple monogenic benign skin tumours
- VACTERL-like phenotypes
- Skeletal dysplasia
- Limb disorders
- Deafness and congenital structural abnormalities
- Intellectual disability
- DDG2P
- Monogenic hearing loss
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mosaic skin disorders - deep sequencing
- Choanal atresia
- Familial hidradenitis suppurativa
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hydrocephalus
- Common craniosynostosis syndromes
- Osteogenesis imperfecta
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FGFR2 were changed from Apert syndrome; Crouzon syndrome to Apert syndrome, OMIM:101200; Crouzon syndrome, OMIM:123500
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FGFR2.
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).
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR2 was added to Hydrocephaluspanel. Source: Expert Review Green
Added New Source
Helen Brittain (Genomics England Curator)FGFR2 was added to Hydrocephaluspanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)FGFR2 was created by helen.brittain