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Primary immunodeficiency

Gene: MKL1

Amber List (moderate evidence)

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

4 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

I don't know

Second family reported.
Created: 11 Apr 2020, 4:01 a.m. | Last Modified: 11 Apr 2020, 4:01 a.m.
Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropaenia with combined immune deficiency

Publications

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
  • Expert Review Amber
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Susceptibility to severe bacterial infection
  • Mild thrombocytopenia
  • Congenital defects of phagocyte number or function
Tags
new-gene-name
OMIM
606078
Clinvar variants
Variants in MKL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mkl1 has been classified as Amber List (Moderate Evidence).

17 Apr 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MKL1 were set to 32048120; 26224645; 32086639

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 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

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.

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mkl1 has been classified as Red List (Low Evidence).

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: MKL1 was changed from to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: MKL1 were set to 26224645

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MKL1 were set to Susceptibility to severe bacterial infection; Mild thrombocytopenia; Congenital defects of phagocyte number or function

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene MKL1 were set to Mild thrombocytopenia, Congenital defects of phagocyte number or function

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

MKL1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

MKL1 was created by Louise Daugherty