Arthrogryposis
Gene: FGFR2EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:18 p.m. | Last Modified: 3 Aug 2022, 3:18 p.m.
Panel Version: 3.161
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 11:29 a.m. | Last Modified: 9 Mar 2022, 11:29 a.m.
Panel Version: 3.152
Alice Gardham (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
- OMIM
- 176943
- Clinvar variants
- Variants in FGFR2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mosaic skin disorders - deep sequencing
- Arthrogryposis
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Radial dysplasia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Limb disorders
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- DDG2P
- Differences in sex development
- Clefting
- Common craniosynostosis syndromes
- Choanal atresia
- Osteogenesis imperfecta
- Familial hidradenitis suppurativa
- Likely inborn error of metabolism
- Hydrocephalus
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene FGFR2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Alice Gardham (Genomics England)FGFR2 was added to Arthrogryposispanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Literature
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for FGFR2 were set to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
Set publications
Alice Gardham (Genomics England)Publications for FGFR2 were set to 9605588
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for FGFR2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Alice Gardham (Genomics England)FGFR2 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)FGFR2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)FGFR2 was added to Arthrogryposispanel. Sources: Expert list