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Early onset dystonia

Gene: KMT2B

Green List (high evidence)
KMT2B (lysine methyltransferase 2B)
EnsemblGeneIds (GRCh38): ENSG00000272333
EnsemblGeneIds (GRCh37): ENSG00000272333
OMIM: 606834, Gene2Phenotype
KMT2B is in 9 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

PMID: 27992417 reports variants in 27 individuals with early onset dystonia. In 20 patients this was de novo, and in a further 3 cases was maternally inherited (with one mother with mild symptoms), suggesting possible incomplete penetrance in two cases. Microdeletions and variants predicted to cause protein truncating, splice defects or nonsense-mediated mRNA, and nonsynonymous missense variants are reported. In silico prediction and expression analysis were also carried out to support the findings.
Created: 3 Jan 2017, 4:51 p.m.
Added the 'treatable' tag: the publication reports that bilateral globus pallidus interna deep brain stimulation (GPi-DBS) led to clinical benefit in patients with dystonia with KMT2B variants.
Created: 3 Jan 2017, 4:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
early-onset dystonia

Publications

Created: 3 Jan 2017, 4:51 p.m.

Panel version: 1.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia 28, childhood-onset, OMIM:617284
  • early-onset dystonia
Tags
treatable
OMIM
606834
Clinvar variants
Variants in KMT2B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Dec 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KMT2B were changed from early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284; early-onset dystonia

3 Jan 2017, 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 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KMT2B was created by ellenmcdonagh

3 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KMT2B was added to Early onset dystoniapanel. Sources: Literature