Craniosynostosis

Gene: KMT2D

Green List (high evidence)

KMT2D (lysine methyltransferase 2D)
EnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 15 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

GeneReviews don't mention CSS. Topa et al state that CSS has been rarely described. Their case also had a 10q22.3q23.1del. Armstrong et al state 6% of 48 clinically confirmed cases have CSS (molecular cause unknown). Martinez-Lage 2010 state CSS is 'rarely documented', but may be a relatively frequent feature, and review reported cases. ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kabuki syndrome 147920

Publications

Eleanor Williams (Genomics England Curator)

I don't know

Associated with Kabuki syndrome (#147920) in OMIM with many cases reported.
Created: 14 Aug 2019, 1:03 p.m. | Last Modified: 14 Aug 2019, 1:03 p.m.
Panel Version: 1.124
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: KMT2D; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Craniosynostosis is a recognised but low frequency complication of Kabuki syndrome. Diagnosis requires relevant mutation type and clinical features of Kabuki.
Created: 15 Sep 2015, 6:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kabuki syndrome

Publications

History Filter Activity

11 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Kabuki syndrome 147920 for gene: KMT2D

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to KMT2D. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for KMT2D were set to 147920

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for KMT2D were set to 20672944; 21280141

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for KMT2D was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

KMT2D was added to Craniosynostosis syndromespanel. Sources: Expert list