Ectodermal dysplasia
Gene: DHX40
Comment on list classification: Currently no gene disease association can be found.Created: 2 Dec 2019, 4:02 p.m. | Last Modified: 2 Dec 2019, 4:02 p.m.
Panel Version: 0.26
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: DHX40; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 3 Sep 2019, 4:19 p.m. | Last Modified: 3 Sep 2019, 4:19 p.m.
Panel Version: 0.18
Gene: dhx40 has been classified as Red List (Low Evidence).
Phenotypes for gene: DHX40 were changed from Corneal dystrophy, posterior polymorphous, 4, 618031; Deafness, autosomal dominant 28, 608641; Ectodermal dysplasia/short stature syndrome, 616029 to Ectodermal dysplasia
Phenotypes for gene: DHX40 were changed from to Corneal dystrophy, posterior polymorphous, 4, 618031; Deafness, autosomal dominant 28, 608641; Ectodermal dysplasia/short stature syndrome, 616029
gene: DHX40 was added gene: DHX40 was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: DHX40 was set to