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  3. KMT2A
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Hand and foot malformations

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Limb anomalies, such as syndactyly is an established feature of the condition.
Created: 23 Sep 2021, 12:10 a.m. | Last Modified: 23 Sep 2021, 12:10 a.m.
Panel Version: 0.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Wiedemann-Steiner syndrome MIM#605130

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Sep 2021, 12:10 a.m.
Last Modified: 23 Sep 2021, 12:10 a.m.
Panel version: 0.32

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Leukemia, myeloid/lymphoid or mixed-lineage 159555 AD; Wiedemann-Steiner syndrome 605130 AD

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Feb 2020, 4:17 a.m.
Last Modified: 28 Feb 2020, 4:17 a.m.
Panel version: Imported from Mendeliome panel version 0.1473

Details

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

History Filter Activity

23 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

23 Sep 2021, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: KMT2A were set to

23 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 Sep 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KMT2A was added gene: KMT2A was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome MIM#605130