Palmoplantar keratoderma and erythrokeratodermas

Gene: GJB6

Green List (high evidence)

GJB6 (gap junction protein beta 6)
EnsemblGeneIds (GRCh38): ENSG00000121742
EnsemblGeneIds (GRCh37): ENSG00000121742
OMIM: 604418, Gene2Phenotype
GJB6 is in 7 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green after discussion with Helen Brittain: Clouston syndrome phenotype includes PPK, and 3 unrelated cases of GJB6 variants supporting causation of Clouston syndrome.
Created: 3 Apr 2017, 11:18 a.m.
PMID:27137747 (Yang et al., 2016) identify a heterozygous missense mutation c.263C>T (p.A88V) in GJB6 in a Chinese family with Clouston syndrome. Hyperkeratosis of the palms and soles was more severe in elderly patients than in younger ones.
Created: 3 Apr 2017, 11:15 a.m.
Agarwal, 2016 (PMID:27643550) report a GJB6 mutation in an Indian man with Clouston syndrome.The patient had complaints of excessively thickened skin of the palms and soles. On examination, the patient was found to have severe hyperkeratosis of the palms and soles which led to clawing of the hands.
Created: 23 Mar 2017, 10:51 a.m.
Smith et al, 2002 (PMID:11874494) report a novel mutation V37E in GJB6 in a spontaneous case of Clouston syndrome.
Created: 23 Mar 2017, 10:49 a.m.
Ectodermal dysplasia (ECTD2; OMIM:129500), also known as Clouston syndrome is an autosomal dominant skin disorder caused by mutations in GJB6, and characterized by palmoplantar hyperkeratosis, hair defects (from partial to total alopecia), nail hypoplasia, and nail deformities.
Created: 22 Feb 2017, 5:45 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Ectodermal dysplasia 2, Clouston type, 129500
  • Clouston syndrome
  • palmoplantar hyperkeratosis
  • ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
OMIM
604418
Clinvar variants
Variants in GJB6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Apr 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

10 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

3 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

23 Mar 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for GJB6 were set to 8845850; 11874494

22 Feb 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for GJB6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Jan 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for GJB6 were set to 8845850

5 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

GJB6 was created by rfoulger

5 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

GJB6 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other