Deafness and congenital structural abnormalities
Gene: KDM6A
Previous reviews re hemifacial microsomia. Hearing loss and structural ear anomalies (cupped ears) are common in Kabuki.Created: 26 Oct 2016, 4:05 a.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)
Kabuki phenotype different to this panelCreated: 17 Oct 2016, 12:40 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)
Mode of pathogenicity
Other
Comment on phenotypes: Phenotype not relevant to this panelCreated: 5 Oct 2016, 8:19 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. At least six variants reported.Created: 15 Sep 2016, 1:09 p.m.
Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:58 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Inheritance:X-linked dominantCreated: 9 Feb 2016, 5:16 p.m.
Mode of inheritance
Other
Phenotypes
#300867:Kabuki syndrome 2 [Less than third centile; Less than third centile; Occipitofrontal circumference less than third centile; Prominent ears; Large auricle; Cupped ears (in some patients); Arched eyebrows; Sparse lateral eyebrows; Long palpebral fissure; Long eyelashes; Eversion of lateral third of lower eyelid; Strabismus; Broad and/or depressed tip of nose; Short columella; High-arched palate; Cleft palate (rare); Dental malocclusion; Hypodontia; Abnormal dentition; Neonatal teeth (rare); Congenital heart disease; Atrial septal defect (in some patients); Atrioventricular septal defect (rare); Pulmonary valve stenosis (rare); Hypoplastic right ventricle (rare); Aortic coarctation (in some patients); Areolar fullness in infancy; Feeding difficulties in infancy; Joint hyperlaxity; Persistent fetal fingertip pads; Brachydactyly (in some patients); Hirsutism; Long eyelashes Sparse lateral eyebrows; Developmental delay, mild to severe; Hypotonia; Seizures; Behavioral difficulties; Neonatal hypoglycemia]
Publications
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
KDM6A was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory KDM6A was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen KDM6A was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN Model of inheritance for gene KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
KDM6A was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red
KDM6A was created by sleigh