Familial hidradenitis suppurativa
Gene: GJB2
GJB2 (gap junction protein beta 2)
EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 11 panels
2 reviews
John McGrath (KCL)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Keratitis-ichthyosis-deafness syndrome, 148210 with follicular occlusion triad (includes hidradenitis suppurativa)
- OMIM
- 121011
- Clinvar variants
- Variants in GJB2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ectodermal dysplasia
- Familial hidradenitis suppurativa
- Palmoplantar keratoderma and erythrokeratodermas
- Ichthyosis and erythrokeratoderma
- Familial cicatricial alopecia
- Palmoplantar keratodermas
- DDG2P
- Ectodermal dysplasia without a known gene mutation
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
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)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