Severe microcephaly
Gene: KMT2B

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

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 1:14 p.m. | Last Modified: 2 May 2024, 1:14 p.m.

Panel Version: 5.4

At least 80 patients have been reported with either KMT2B intragenic variants or chromosomal microdeletions. Clinical presentation most commonly comprises early-onset dystonia, but there were also reports of atypical patterns of dystonia evolution and a subgroup of patients with a neurodevelopmental disorder in the absence of dystonia.

Microcephaly of relevant severity to this panel has been reported in a sufficient number of cases to warrant inclusion on this panel with a Green rating at the next GMS panel update.
Sources: Literature
Created: 5 Dec 2023, 5:12 p.m. | Last Modified: 5 Dec 2023, 5:13 p.m.

Panel Version: 4.46

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

Phenotypes
Dystonia 28, childhood-onset, OMIM:617284; Intellectual developmental disorder, autosomal dominant 68, OMIM:619934

Publications

Created: 5 Dec 2023, 5:12 p.m.
Last Modified: 5 Dec 2023, 5:13 p.m.
Panel version: 5.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
Expert Review Green
Literature

Phenotypes

Dystonia 28, childhood-onset, OMIM:617284
Intellectual developmental disorder, autosomal dominant 68, OMIM:619934

OMIM

606834

Clinvar variants

Variants in KMT2B

Penetrance

None

Publications

Panels with this gene