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Clefting

Gene: KDM6A

Green List (high evidence)

KDM6A (lysine demethylase 6A)
EnsemblGeneIds (GRCh38): ENSG00000147050
EnsemblGeneIds (GRCh37): ENSG00000147050
OMIM: 300128, Gene2Phenotype
KDM6A is in 18 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.

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

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

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

8 Feb 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KDM6A were set to Kabuki syndrome 2, 300867

8 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

8 Feb 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for KDM6A were set to 22197486;23076834;24664873

8 Feb 2017, Gel status: 0

Upload gene information

Louise Daugherty (Genomics England Curator)

KDM6A was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN

8 Feb 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for KDM6A were set to Kabuki syndrome, 300867

8 Dec 2016, Gel status: 0

Created

Usha Kini (Oxford Centre for Genomic Medicine)

KDM6A was created by Ushak

8 Dec 2016, Gel status: 0

Added New Source

Usha Kini (Oxford Centre for Genomic Medicine)

KDM6A was added to Cleftingpanel. Sources: Expert Review