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Primary immunodeficiency

Gene: KMT2A

Red List (low 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
  • IUIS Classification December 2019
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Wiedemann-Steiner syndrome with Congenital immunodeficiency
  • Unclassified antibody deficiency
  • Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability
  • Combined immunodeficiencies with associated or syndromic features
OMIM
159555
Clinvar variants
Variants in KMT2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to KMT2A. Added phenotypes Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability; Combined immunodeficiencies with associated or syndromic features for gene: KMT2A Publications for gene KMT2A were updated from 27320412 to 32048120; 27320412; 32086639

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

12 Jun 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: KMT2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: kmt2a has been classified as Red List (Low Evidence).

31 May 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: KMT2A were set to 27320412

31 May 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: KMT2A were set to Unclassified antibody deficiency; Wiedemann-Steiner syndrome with Congenital immunodeficiency

31 May 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: KMT2A were set to 27320412

31 May 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: KMT2A were set to 27320412

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

KMT2A was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

KMT2A was created by Louise Daugherty