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  3. KMT2A
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Cerebral Palsy

Gene: KMT2A

Green List (high evidence)
KMT2A (lysine methyltransferase 2A)
EnsemblGeneIds (GRCh38): ENSG00000118058
EnsemblGeneIds (GRCh37): ENSG00000118058
OMIM: 159555, Gene2Phenotype
KMT2A is in 12 panels

2 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

1 additional individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Created: 27 May 2024, 6:35 a.m. | Last Modified: 27 May 2024, 6:35 a.m.
Panel Version: 1.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Wiedemann-Steiner syndrome - #605130

Publications

Created: 27 May 2024, 6:35 a.m.
Last Modified: 27 May 2024, 6:35 a.m.
Panel version: 1.193

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Pathogenic/likely pathogenic variants identified in 5 unrelated patients with CP (Moreno-de-Luca et al 2021).
Sources: Expert list, Literature
Created: 27 Sep 2021, 5:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Wiedemann-Steiner syndrome - #605130

Publications

Created: 27 Sep 2021, 5:22 a.m.

Panel version: 0.157

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Wiedemann-Steiner syndrome - #605130
OMIM
159555
Clinvar variants
Variants in KMT2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kmt2a has been classified as Green List (High Evidence).

27 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kmt2a has been classified as Green List (High Evidence).

27 Sep 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: KMT2A was added gene: KMT2A was added to Cerebral Palsy. Sources: Expert list,Literature Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2A were set to 33528536 Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome - #605130 Review for gene: KMT2A was set to GREEN