Ectodermal dysplasia without a known gene mutation
Gene: GJB2
GJB2 (gap junction protein beta 2)
EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000165474
EnsemblGeneIds (GRCh37): ENSG00000165474
OMIM: 121011, Gene2Phenotype
GJB2 is in 11 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Promoted to version 1 10th August 2016Created: 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.
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
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- clouston syndrome
- OMIM
- 121011
- Clinvar variants
- Variants in GJB2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Monogenic hearing loss
- Fetal anomalies
- Ectodermal dysplasia
- Familial hidradenitis suppurativa
- Palmoplantar keratoderma and erythrokeratodermas
- Intellectual disability
- Ichthyosis and erythrokeratoderma
- Familial cicatricial alopecia
- Palmoplantar keratodermas
- DDG2P
- Ectodermal dysplasia without a known gene mutation
History Filter Activity
10 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 10th August 2016
10 Aug 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 Aug 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 Aug 2016, Gel status: 2
Set publications
Sarah Leigh (Genomics England Curator)Publications for GJB2 were set to 25808784; 2681028; 25575739; 15757815
25 Jul 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
22 Jul 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GJB2 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Literature
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GJB2 was created by ellenmcdonagh