Kabuki syndrome
Gene: KDM6A

KDM6A (lysine demethylase 6A)
EnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 16 panels

4 reviews

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Siddharth Banka banka (Univesrsity of Manchester)

Green List (high evidence)

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 Type 2

Publications

PMID: 24527667
PMID: 24664873
PMID: 22197486

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

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: X-linked dominant.
Created: 3 May 2016, 9:11 a.m.

Comment on list classification: Confirmed DD gene for Kabuki syndrome 2, and all reviewers agree.
Created: 3 May 2016, 9:10 a.m.

Created: 3 May 2016, 9:10 a.m.

Panel version: 0.3

Helen Savage (Congenica Ltd)

Green List (high evidence)

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

Publications

Created: 25 Jan 2016, 4:42 p.m.

Panel version: 0.2

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
Emory Genetics Laboratory
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Kabuki syndrome 2
Kabuki Syndrome Type 2

OMIM

300128

Clinvar variants

Variants in KDM6A

Penetrance

Complete

Publications

Panels with this gene