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  3. KMT2A
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Cytopenias and congenital anaemias

Gene: KMT2A

Red List (low evidence)
KMT2A (lysine methyltransferase 2A)
EnsemblGeneIds (GRCh38): ENSG00000118058
EnsemblGeneIds (GRCh37): ENSG00000118058
OMIM: 159555, Gene2Phenotype
KMT2A is in 7 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

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

Phenotypes
Acute myeloid leukaemia (AML)

Created: 9 Mar 2017, 4:32 p.m.

Panel version: 0.522

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Acute myeloid leukaemia (AML)

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

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
somatic
OMIM
159555
Clinvar variants
Variants in KMT2A
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

KMT2A was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

KMT2A was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

KMT2A was created by LouiseD