Clefting
Gene: KDM6A

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added type
Created: 8 Feb 2017, 5:56 p.m.

Comment on list classification: There is enough evidence from the curated sources, literature and expert review to make change the status of this gene to Green.
Created: 8 Feb 2017, 5:55 p.m.

Comment on publications: Added publications that support pertinent cases for this disorder
Created: 8 Feb 2017, 5:50 p.m.

Comment on phenotypes: added MIM id
Created: 8 Feb 2017, 5:28 p.m.

Created: 8 Feb 2017, 5:28 p.m.

Panel version: 0.162

Usha Kini (Oxford Centre for Genomic Medicine)

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

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

Created: 8 Dec 2016, 10:28 a.m.

Panel version: 0.34

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
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Kabuki syndrome 2, 300867

OMIM

300128

Clinvar variants

Variants in KDM6A

Penetrance

Complete

Publications

Panels with this gene