Childhood onset dystonia, chorea or related movement disorder
Gene: KMT2B

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

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

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

OMIM

606834

Clinvar variants

Variants in KMT2B

Penetrance

None

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

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to KMT2B. Mode of inheritance for gene KMT2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dystonia 28, childhood-onset 617284; early-onset dystonia for gene: KMT2B Publications for gene KMT2B were changed from to 27992417