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  3. GJB6
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Ectodermal dysplasia without a known gene mutation

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

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: 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: 0.68

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Clouston syndrome
  • Ectodermal dysplasia 2, Clouston type, 129500
  • Hidrotic Ectodermal Dysplasia
OMIM
604418
Clinvar variants
Variants in GJB6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

22 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

22 Jul 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GJB6 were set to 11017065;27137747;25808784;25575739;23981984

22 Jul 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GJB6 were set to 11017065

22 Jul 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GJB6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

22 Jul 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GJB6 were set to Clouston syndrome; Ectodermal dysplasia 2, Clouston type, 129500; Hidrotic Ectodermal Dysplasia

8 Oct 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB6 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: UKGTN

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB6 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Illumina TruGenome Clinical Sequencing Services

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB6 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB6 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen