Comment on phenotypes: added type
Created: 8 Feb 2017, 5:56 p.m.
Comment on list classification: There is enough evidence from the curated sources, literature and expert review to make change the status of this gene to Green.
Created: 8 Feb 2017, 5:55 p.m.
Comment on publications: Added publications that support pertinent cases for this disorder
Created: 8 Feb 2017, 5:50 p.m.
Comment on phenotypes: added MIM id
Created: 8 Feb 2017, 5:28 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Variants in this GENE are reported as part of current diagnostic practice
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Phenotypes for KDM6A were set to Kabuki syndrome 2, 300867
This gene has been classified as Green List (High Evidence).
Publications for KDM6A were set to 22197486;23076834;24664873
KDM6A was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Phenotypes for KDM6A were set to Kabuki syndrome, 300867
KDM6A was created by Ushak
KDM6A was added to Cleftingpanel. Sources: Expert Review