Familial hidradenitis suppurativa

Gene: GJB2

Amber List (moderate evidence)

GJB2 (gap junction protein beta 2)
EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 12 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 (follicular occlusion for GJB2).
Created: 20 Jun 2017, 8:21 a.m.

Rebecca Foulger (Genomics England curator)

2 reports of keratitis-ichthyosis-deafness (KID) syndrome occurring with follicular occlusion triad (which includes hidradenitis suppurativa): PMID:16172043 and PMID:15337980. PMID:16172043 report the case of a 31-year-old black male with KID syndrome and a heterozygous missense variant D50N in the GJB2 gene. In addition to the classical features of vascularizing keratitis, erythrokeratoderma and congenital deafness, the patient presented a follicular occlusion triad with HS, acne conglobata and dissecting cellulitis of the scalp (full paper not accessible). PMID:15337980 report a male with KID syndrome and a heterozygous c.119C>T variant (p.A40V) in GJB2. The patient also had inflammatory dissecting folliculitis of the scalp, HS, and cystic acne.
Created: 6 Jul 2017, 2:56 p.m.
Comment on list classification: Updated rating from Red to Amber following expert review from disease nominator, Prof. John McGrath. Follicular occlusion triad phenotype (which includes hidradenitis suppurativa) seen in at least 2 cases with GJB2 mutations.
Created: 20 Jun 2017, 9:37 a.m.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Expert Review Amber
  • Literature
  • Keratitis-ichthyosis-deafness syndrome, 148210 with follicular occlusion triad (includes hidradenitis suppurativa)
Clinvar variants
Variants in GJB2
Panels with this gene

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


Rebecca Foulger (Genomics England curator)

GJB2 was created by rfoulger

19 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

GJB2 was added to Familial hidradenitis suppurativapanel. Sources: Literature