Structural basal ganglia disorders
Gene: KMT2B

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a probable G2P. At least 8 variants reported.
Created: 6 Mar 2017, 2:55 p.m.

From comments on "Early onset dystonia" panel, publication reports that bilateral globus pallidus interna deep brain stimulation (GPi-DBS) led to clinical benefit in patients with dystonia with KMT2B variants.
Created: 6 Mar 2017, 2:54 p.m.

Created: 6 Mar 2017, 2:54 p.m.

Panel version: 0.146

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

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

Created: 1 Mar 2017, 3:35 p.m.

Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Dystonia 28, childhood-onset, OMIM:617284
early-onset dystonia

Tags

treatable

OMIM

606834

Clinvar variants

Variants in KMT2B

Penetrance

Complete

Publications

27992417

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 Dystonia 28, childhood-onset 617284 to Dystonia 28, childhood-onset, OMIM:617284; early-onset dystonia

16 Mar 2017, Gel status: 4