COVID-19 researchGene: MKL1
Created: 29 Jun 2018, 9:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
susceptibility to severe bacterial infection
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.
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)
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