Ectodermal dysplasia
Gene: GJB2No further cases of genotype to phenotype identified in the literature, so maintaining Amber ratingCreated: 2 Dec 2019, 4:25 p.m. | Last Modified: 2 Dec 2019, 4:25 p.m.
Panel Version: 0.29
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.
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.
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
Source Expert Review Amber was added to GJB2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Added phenotypes Hystrix-like ichthyosis with deafness, 602540; clouston syndrome; Scarring alopecia; HID syndrome for gene: GJB2
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