Primary immunodeficiencyGene: MKL1
Comment on list classification: Promoted from Red to Amber based on expert review and additional of second case.
Created: 17 Apr 2020, 11:34 a.m. | Last Modified: 17 Apr 2020, 11:34 a.m.
Panel Version: 2.101
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.
Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Publications for gene: MKL1 were set to 32048120; 26224645; 32086639
Source IUIS Classification December 2019 was added to MKL1. Added phenotypes Mild thrombocytopenia; Congenital defects of phagocyte number or function for gene: MKL1 Publications for gene MKL1 were updated from 26224645 to 32048120; 26224645; 32086639
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.
Gene: mkl1 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: MKL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKL1 were set to 26224645
Phenotypes for gene: MKL1 were set to Susceptibility to severe bacterial infection; Mild thrombocytopenia; Congenital defects of phagocyte number or function
Phenotypes for gene MKL1 were set to Mild thrombocytopenia, Congenital defects of phagocyte number or function
MKL1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
MKL1 was created by Louise Daugherty