Deafness and congenital structural abnormalities

Gene: KDM6A

Green List (high evidence)

KDM6A (lysine demethylase 6A)
EnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 15 panels

7 reviews

Richard Scott (Genomics England Curator)

Green List (high evidence)

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)

Muriel Holder (Clinical Genetics, Guy's Hospital)

Red List (low evidence)

Kabuki phenotype different to this panel
Created: 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

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Phenotype not relevant to this panel
Created: 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.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:58 p.m.

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)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Kabuki syndrome 2
OMIM
300128
Clinvar variants
Variants in KDM6A
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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.

26 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Oct 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

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)

5 Oct 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

KDM6A was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

KDM6A was created by sleigh