Defects of intrinsic and innate immunity
Gene: MAPK8EnsemblGeneIds (GRCh38): ENSG00000107643
EnsemblGeneIds (GRCh37): ENSG00000107643
OMIM: 601158, Gene2Phenotype
MAPK8 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mapk8 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: MAPK8 were changed from to Chronic mucocutaneous candidiasis; Connective tissue disorders
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: MAPK8 were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mapk8 has been classified as Amber List (Moderate Evidence).
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