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  3. MKL1
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Phagocyte Defects

Gene: MKL1

Amber List (moderate evidence)
MKL1 (megakaryoblastic leukemia (translocation) 1)
EnsemblGeneIds (GRCh38): ENSG00000196588
EnsemblGeneIds (GRCh37): ENSG00000196588
OMIM: 606078, Gene2Phenotype
MKL1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported.
Sources: Expert list
Created: 5 Apr 2020, 5:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neutropaenia with combined immune deficiency

Publications

Created: 5 Apr 2020, 5:39 a.m.

Panel version: 0.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Neutropaenia with combined immune deficiency
OMIM
606078
Clinvar variants
Variants in MKL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MKL1 was added gene: MKL1 was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: MKL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKL1 were set to 32128589; 26224645 Phenotypes for gene: MKL1 were set to Neutropaenia with combined immune deficiency Review for gene: MKL1 was set to AMBER