Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

Gene: KDM6A

Green List (high evidence)

LOF/haploinsufficiency - multiple PTC variants reported.
- No current studies on missense variants reported in the C-terminal region of the protein.

Female patients have been reported with random and skewed X-inactivation cases. Maternal relatives who are carriers have been reported to have milder phenotypes.

Created: 18 Jun 2020, 5:50 a.m. | Last Modified: 18 Jun 2020, 5:50 a.m.

Panel Version: 0.3111

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 2, 300867

Publications

• PMID:27302555
• 24664873

Variants in this GENE are reported as part of current diagnostic practice