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Kabuki syndrome

Gene: KDM6A

Green List (high evidence)

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

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

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

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.

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

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

History Filter Activity

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

3 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for KDM6A were set to Kabuki syndrome 2; Kabuki Syndrome Type 2

3 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for KDM6A were set to PMID: 24527667; 24664873; 22197486; 22197486; 23076834; 24633898; 24664873

3 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for KDM6A was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

6 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

KDM6A was added to Kabuki syndromepanel. Sources: Emory Genetics Laboratory

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

KDM6A was added to Kabuki syndromepanel. Sources: UKGTN

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

KDM6A was added to Kabuki syndromepanel. Sources: Radboud University Medical Center, Nijmegen