Kabuki syndrome
Gene: KDM6A
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Kabuki Syndrome Type 2
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: X-linked dominant.Created: 3 May 2016, 9:11 a.m.
Comment on list classification: Confirmed DD gene for Kabuki syndrome 2, and all reviewers agree.Created: 3 May 2016, 9:10 a.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for KDM6A were set to Kabuki syndrome 2; Kabuki Syndrome Type 2
Publications for KDM6A were set to PMID: 24527667; 24664873; 22197486; 22197486; 23076834; 24633898; 24664873
Mode of inheritance for KDM6A was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
KDM6A was added to Kabuki syndromepanel. Sources: Emory Genetics Laboratory
KDM6A was added to Kabuki syndromepanel. Sources: UKGTN
KDM6A was added to Kabuki syndromepanel. Sources: Radboud University Medical Center, Nijmegen