Ectodermal dysplasia
Gene: GJB6

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

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Clouston syndrome

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Found in 3/4 original sources, and rated green by expert review. Different missense variants reported to cause ectodermal dysplasia, hidrotic or ectodermal dysplasia 2, clouston type in OMIM, plus multiple more recent published reports.
Created: 22 Jul 2016, 2:20 p.m.

Comment on mode of inheritance: Confirmed on OMIM.
Created: 22 Jul 2016, 2:12 p.m.

Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.
Created: 19 Nov 2015, 3:17 p.m.

Created: 22 Jul 2016, 2:20 p.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0.68

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Ectodermal dysplasia 2, Clouston type, 129500
Clouston syndrome
Hidrotic Ectodermal Dysplasia

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 Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJB6 were set to 11017065; 23981984; 25575739; 25808784; 27137747 Phenotypes for gene: GJB6 were set to Ectodermal dysplasia 2, Clouston type, 129500; Clouston syndrome; Hidrotic Ectodermal Dysplasia

Ectodermal dysplasia Gene: GJB6