Comment on list classification: New gene added by expert reviewer. This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. Based on the evidence and review there is enough evidence to support a gene-disease association; therefore, this gene has been given Green status.
Created: 11 May 2020, 10:23 a.m. | Last Modified: 11 May 2020, 10:23 a.m.
Panel Version: 1.95
Renal malformations are a recognised feature of this syndrome.
Sources: Expert list
Created: 16 Jan 2020, 4:10 a.m.
Mode of inheritance
Kabuki syndrome 2, MIM# 300867
Gene: kdm6a has been classified as Green List (High Evidence).
Mode of inheritance for gene: KDM6A was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: KDM6A were changed from Kabuki syndrome 2, MIM# 300867 to Kabuki syndrome 2, 300867
gene: KDM6A was added gene: KDM6A was added to CAKUT. Sources: Expert list Mode of inheritance for gene: KDM6A was set to Other Publications for gene: KDM6A were set to 23535010 Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM# 300867 Review for gene: KDM6A was set to GREEN