Ichthyosis and erythrokeratoderma

Gene: GJB6

Green List (high evidence)

GJB6 (gap junction protein beta 6)
EnsemblGeneIds (GRCh38): ENSG00000121742
EnsemblGeneIds (GRCh37): ENSG00000121742
OMIM: 604418, Gene2Phenotype
GJB6 is in 6 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
Phenotypes
  • Ectodermal dysplasia 2, Clouston type, 129500
  • Clouston syndrome
  • palmoplantar hyperkeratosis
  • ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT
OMIM
604418
Clinvar variants
Variants in GJB6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GJB6 was added gene: GJB6 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GJB6 were set to 8845850; 11874494 Phenotypes for gene: GJB6 were set to Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; palmoplantar hyperkeratosis; ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT