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COVID-19 research

Gene: KMT2A

Green List (high evidence)

KMT2A (lysine methyltransferase 2A)
EnsemblGeneIds (GRCh38): ENSG00000118058
EnsemblGeneIds (GRCh37): ENSG00000118058
OMIM: 159555, Gene2Phenotype
KMT2A is in 8 panels

2 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Poor evidence for any pathogenic link to immunodeficiency (single case report of immunodeficiency in a child with Wiedemann-Steiner syndrome and KMT2A mutation)
Created: 11 Jun 2018, 1:39 p.m.

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

Louise Daugherty (Genomics England Curator)

I don't know

Comment on mode of inheritance: Added MOI from external expert review
Created: 12 Jun 2018, 4:52 p.m.
Gene kept Red, external expert review supports Red status due to only one case reported, that has poor evidence for any pathogenic link to immunodeficiency.
Created: 12 Jun 2018, 4:46 p.m.
Comment on phenotypes: added phenotype from PMID: 27320412. Currently only one reported case in the literature with this observed phenotype caused by KMT2A
Created: 31 May 2018, 10:45 a.m.
Comment on publications: added publication to support PID phenotype. Missense variant reported.
Created: 31 May 2018, 10:44 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: 11q23, PanelApp HGNC gene symbol check: KMT2A, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Unclassified antibody deficiency / Unclassified antibody deficiency
Created: 17 Apr 2018, 12:29 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Wiedemann-Steiner syndrome with Congenital immunodeficiency
  • Unclassified antibody deficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability
OMIM
159555
Clinvar variants
Variants in KMT2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to KMT2A. Added phenotypes Wiedemann-Steiner syndrome with Congenital immunodeficiency; Combined immunodeficiencies with associated or syndromic features; Unclassified antibody deficiency; Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability for gene: KMT2A Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: KMT2A was added gene: KMT2A was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,IUIS Classification December 2019 Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2A were set to 32086639; 32048120; 27320412 Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome with Congenital immunodeficiency; Combined immunodeficiencies with associated or syndromic features; Unclassified antibody deficiency; Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability