Ectodermal dysplasia without a known gene mutation
Gene: GJB2Comment 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.
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
Promoted to version 1 10th August 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for GJB2 were set to 25808784; 2681028; 25575739; 15757815
This gene has been classified as Amber List (Moderate Evidence).
GJB2 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Literature
GJB2 was created by ellenmcdonagh