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  2. Combined Immunodeficiency
  3. KMT2A
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Combined Immunodeficiency

Gene: KMT2A

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

4 cases with combined immunodeficiency from 2 unrelated families.
Sources: Expert list
Created: 18 Mar 2021, 4:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Wiedemann-Steiner syndrome MIM#605130

Publications

Created: 18 Mar 2021, 4:07 a.m.

Panel version: 0.191

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • 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

18 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kmt2a has been classified as Amber List (Moderate Evidence).

18 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: kmt2a has been classified as Amber List (Moderate Evidence).

18 Mar 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KMT2A was added gene: KMT2A was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2A were set to 32048120; 28623346; 27320412 Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome MIM#605130 Review for gene: KMT2A was set to AMBER