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COVID-19 research

Gene: KMT2D

Green List (high evidence)

KMT2D (lysine methyltransferase 2D)
EnsemblGeneIds (GRCh38): ENSG00000167548
EnsemblGeneIds (GRCh37): ENSG00000167548
OMIM: 602113, Gene2Phenotype
KMT2D is in 20 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: Comment on publications: Added publications to support immunodeficiency phenotype and KS. Stagi S et al. (2016) PMID: 26411453 noted that most KS patients show increased susceptibility to infections and have reduced serum immunoglobulin levels, while some suffer also from autoimmune manifestations, such as idiopathic thrombocytopenic purpura, hemolytic anemia, autoimmune thyroiditis, and vitiligo. They reviewed the immunological aspects of KS and proposed a novel model to account for the immune dysfunction observed in this condition.
Created: 6 Jul 2018, 2:38 p.m.
Comment on publications: Comment on publications: Immunological abnormalities and KS were systematically analyzed for the first time in 2005, Hoffman JD et al. (2005) PMID:15887282. Although it was noted that no studies have analyzed in detail the functional consequences of KMT2D and KDM6A mutations on the immune system of patients with KS, and no mechanistic models accounting for such abnormalities have been proposed. Low serum immunoglobulin levels and reduced memory T and B lymphocytes have been reported Lin JL et al. (2015) PMID:25142838. Also increased occurrence of autoimmune manifestations, such as idiopathic thrombocytopenic purpura (ITP), hemolytic anemia, autoimmune thyroiditis, and vitiligo has been reported by Ming JE et al. (2005) PMID:15523604, suggests that both KMT2D and KDM6A genes may play a relevant, still undisclosed, role in the immune homeostasis.
Created: 6 Jul 2018, 2:37 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): KMT2D (MLL2) .PanelApp HGNC gene symbol check: KMT2D . IUIS Disease: Kabuki Syndrome 1 due to KMT2D deficiency . IUIS Inheritance: AD .T cells: Nl number, defective migration, proliferaton, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Other Combined immunodeficiencies with associated or syndromic features
Created: 6 Jul 2018, 12:29 p.m.

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Immunodeficiency not a prominent feature
Created: 29 Jun 2018, 9:39 p.m.

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

Phenotypes
Kabuki syndrome 1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Kabuki syndrome 1, 147920
  • Combined immunodeficiencies with associated or syndromic features
  • Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present
OMIM
602113
Clinvar variants
Variants in KMT2D
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 KMT2D. Added phenotypes Kabuki syndrome 1, 147920; Combined immunodeficiencies with associated or syndromic features; Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present for gene: KMT2D 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: KMT2D was added gene: KMT2D was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2D were set to 25142838; 26411453; 32086639; 15887282; 15523604; 32048120 Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, 147920; Combined immunodeficiencies with associated or syndromic features; Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present