Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MAPK8Comment on list classification: Relevant phenotype for this panel, but additional cases required to validate pathogenicity.Created: 17 Sep 2020, 2:34 p.m. | Last Modified: 17 Sep 2020, 2:34 p.m.
Panel Version: 2.186
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.Created: 17 Sep 2020, 2:33 p.m. | Last Modified: 17 Sep 2020, 2:33 p.m.
Panel Version: 2.185
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Sources: LiteratureCreated: 2 Sep 2020, 8 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
chronic mucocutaneous candidiasis; connective tissue disorders
Publications
Gene: mapk8 has been classified as Red List (Low Evidence).
gene: MAPK8 was added gene: MAPK8 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: MAPK8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPK8 were set to 31901076 Phenotypes for gene: MAPK8 were set to chronic mucocutaneous candidiasis; connective tissue disorders Penetrance for gene: MAPK8 were set to unknown Review for gene: MAPK8 was set to AMBER