Bilateral microtia

Gene: KDM6A

Red List (low evidence)

KDM6A (lysine demethylase 6A)
EnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 19 panels

3 reviews

Ana Beleza (Bristol Regional Genetics Service)

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

Jun Shen (Harvard Medical School)

Red List (low evidence)

Inheritance:X-linked dominant
Created: 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

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

History Filter Activity

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KDM6A was added to Bilateral Microtiapanel. Sources: Expert list