Defects of intrinsic and innate immunity

Gene: MAPK8

Amber List (moderate evidence)

MAPK8 (mitogen-activated protein kinase 8)
EnsemblGeneIds (GRCh38): ENSG00000107643
EnsemblGeneIds (GRCh37): ENSG00000107643
OMIM: 601158, Gene2Phenotype
MAPK8 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID: 31784499 (2020) - Three cases in a single family with chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with hEDS. WES revealed a splice-site variant (c.311+1G>A) in the MAPK8 gene that segregated with the disorder. Includes supportive functional data using patient-derived fibroblasts, showing that the variant impairs IL-17A/F immunity and the development of Th17 cells.

Single family with high level of supportive functional data.
Sources: Literature
Created: 18 Sep 2020, 1:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chronic mucocutaneous candidiasis; Connective tissue disorders

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Literature
Phenotypes
  • Chronic mucocutaneous candidiasis
  • Connective tissue disorders
OMIM
601158
Clinvar variants
Variants in MAPK8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mapk8 has been classified as Amber List (Moderate Evidence).

10 Nov 2024, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: MAPK8 were changed from to Chronic mucocutaneous candidiasis; Connective tissue disorders

10 Nov 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MAPK8 were set to

10 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mapk8 has been classified as Amber List (Moderate Evidence).

10 Nov 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

gene: MAPK8 was added gene: MAPK8 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: MAPK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted