Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: KDM6A

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

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Insufficient information at present. Added by TL due to overlap with KMT2D (and from Zollino et al 2017 Front Neurosci) ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
Kabuki syndrome 2 - 300867

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: KDM6A; Suggested initial gene rating: red
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Details

Sources

NHS GMS

Phenotypes

Kabuki syndrome 2 300867

OMIM

300128

Clinvar variants

Variants in KDM6A

Penetrance

None

Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Kabuki syndrome 2 300867 for gene: KDM6A

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: KDM6A was added gene: KDM6A was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: KDM6A was set to

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: KDM6A