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  3. GJB2
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Ectodermal dysplasia

Gene: GJB2

Amber List (moderate evidence)
GJB2 (gap junction protein beta 2)
EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 11 panels

4 reviews

Catherine Snow (Genomics England)

No further cases of genotype to phenotype identified in the literature, so maintaining Amber rating
Created: 2 Dec 2019, 4:25 p.m. | Last Modified: 2 Dec 2019, 4:25 p.m.
Panel Version: 0.29
Created: 2 Dec 2019, 4:25 p.m.
Last Modified: 2 Dec 2019, 4:25 p.m.
Panel version: 0.29

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: Scarring alopecia listed in OMIM clinical synopsis for HID syndrome (MIM:602540) but no further evidence for the role of GJB2 in scarring/cicatricial alopecia.
Created: 13 Jul 2017, 2:39 p.m.
Created: 13 Jul 2017, 2:39 p.m.

Panel version: Imported from Familial cicatricial alopecia panel version 0.35

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Promoted to version 1 10th August 2016
Created: 10 Aug 2016, 1:47 p.m.
Comment on list classification: There are quite a few phenotypes associated with connexin 26 mutations but ectodermal dysplasias relates to a very small subset and even those are not really true ED syndromes. For me, I don't think this gene needs to be pre-screened for this condition (comments from John McGrath)
Created: 10 Aug 2016, 1:46 p.m.
Created: 10 Aug 2016, 1:46 p.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0.142

Ellen McDonagh (Genomics England Curator)

There seems to be evidence that variants within this gene are also associated with ectodermal dysplasia...unsure whether there is a diagnostic-grade level of evidence.
Created: 22 Jul 2016, 2:24 p.m.

Mode of inheritance
Unknown

Phenotypes
clouston syndrome

Publications

Created: 22 Jul 2016, 2:24 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 Amber
Phenotypes
  • Hystrix-like ichthyosis with deafness, 602540
  • clouston syndrome
  • Scarring alopecia
  • HID syndrome
OMIM
121011
Clinvar variants
Variants in GJB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2019, Gel status: 2

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Amber was added to GJB2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

3 Jan 2019, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Hystrix-like ichthyosis with deafness, 602540; clouston syndrome; Scarring alopecia; HID syndrome for gene: GJB2

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: GJB2 was added gene: GJB2 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GJB2 were set to 2681028; 25575739; 25808784; 15757815 Phenotypes for gene: GJB2 were set to Hystrix-like ichthyosis with deafness, 602540; clouston syndrome; Scarring alopecia; HID syndrome