Ectodermal dysplasia without a known gene mutation
Gene: GJB6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Clouston syndrome
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.
Promoted to version 1 10th August 2016
This gene has been classified as Green List (High Evidence).
Publications for GJB6 were set to 11017065;27137747;25808784;25575739;23981984
Publications for GJB6 were set to 11017065
Mode of inheritance for GJB6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for GJB6 were set to Clouston syndrome; Ectodermal dysplasia 2, Clouston type, 129500; Hidrotic Ectodermal Dysplasia
Model of inheritance for gene GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GJB6 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: UKGTN
Model of inheritance for gene GJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GJB6 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Illumina TruGenome Clinical Sequencing Services
GJB6 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
GJB6 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen