Structural basal ganglia disorders

Gene: KMT2B

Green List (high evidence)

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.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

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

Details

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

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Mar 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for KMT2B were set to Dystonia 28, childhood-onset 617284

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Mar 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for KMT2B were set to 27992417

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

KMT2B was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

KMT2B was added to Structural basal ganglia disorderspanel. Sources: Literature