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COVID-19 research

Gene: MKL1

Green List (high evidence)

MKL1 (megakaryoblastic leukemia (translocation) 1)
EnsemblGeneIds (GRCh38): ENSG00000196588
EnsemblGeneIds (GRCh37): ENSG00000196588
OMIM: 606078, Gene2Phenotype
MKL1 is in 3 panels

2 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

single case
Created: 29 Jun 2018, 9:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
susceptibility to severe bacterial infection

Publications

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): MKL1 .PanelApp HGNC gene symbol check: MKL1 . IUIS Disease: Neutropenia with combined immune deficiency due to MKL1 deficiency . IUIS Inheritance: AR .T cells: Very low, .B cells: N/A, .IUIS Other affected cells: N + M +L + NK. IUIS Associated features: Mild thrombocytopenia. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of Motility
Created: 2 Jul 2018, 10:35 a.m.
added new gene name tag - HGNC approved gene name is MRTFA
Created: 27 Jun 2018, 8:56 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Susceptibility to severe bacterial infection
  • Mild thrombocytopenia
  • Congenital defects of phagocyte number or function
OMIM
606078
Clinvar variants
Variants in MKL1
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 MKL1. Added phenotypes Susceptibility to severe bacterial infection; Mild thrombocytopenia; Congenital defects of phagocyte number or function for gene: MKL1 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: MKL1 was added gene: MKL1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: MKL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKL1 were set to 26224645; 32086639; 32048120 Phenotypes for gene: MKL1 were set to Susceptibility to severe bacterial infection; Mild thrombocytopenia; Congenital defects of phagocyte number or function