Familial hidradenitis suppurativa

Gene: FGFR2

Amber List (moderate evidence)

FGFR2 (fibroblast growth factor receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000066468
EnsemblGeneIds (GRCh37): ENSG00000066468
OMIM: 176943, Gene2Phenotype
FGFR2 is in 25 panels

2 reviews

John McGrath (KCL)

I don't know

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.

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