Familial hidradenitis suppurativa
Gene: FGFR2
FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 23 panels
2 reviews
John McGrath (KCL)
Amber as definite HS-like features have been reported although the clinical total features are different (comedonal acne for FGFR2).Created: 20 Jun 2017, 8:21 a.m.
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Amber following review from expert and disease nominator Prof. John McGrath. Hidradenitis suppurativa phenotype reported for patient with FGFR2 mutation, but alongside nevus comedones.Created: 20 Jun 2017, 9:35 a.m.
PMID:28293556 report hidradenitis and nevus comedonicus in a male patient. A rare, heterozygous, missense mutation in the FGFR2 gene was found (c.G492C, p.K164N). Other family members had similar conditions but samples could not be taken from the family.Created: 19 Jun 2017, 10:18 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Nevus comedonicus, multifocal hidradenitis suppurativa and acne
- 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
6 Jul 2017, Gel status: 2
panel promoted to version 1
Rebecca Foulger (Genomics England curator)6th July 2017: Revised panel and promoted to Version 1.0 based on expert review. Although PSENEN, NCSTN and PSEN1 (all green genes on this panel) collectively only account for approximately 7% of all hidradenitis suppurativa (HS), there is insufficient evidence to promote any further genes to green at this time.
20 Jun 2017, Gel status: 2
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
19 Jun 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)FGFR2 was created by rfoulger
19 Jun 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)FGFR2 was added to Familial hidradenitis suppurativapanel. Sources: Literature