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Primary immunodeficiency

Gene: MAPK8

Red List (low evidence)

MAPK8 (mitogen-activated protein kinase 8)
EnsemblGeneIds (GRCh38): ENSG00000107643
EnsemblGeneIds (GRCh37): ENSG00000107643
OMIM: 601158, Gene2Phenotype
MAPK8 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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

Boaz Palterer (University of Florence)

I don't know

Sources: Literature
Created: 2 Sep 2020, 8 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
chronic mucocutaneous candidiasis; connective tissue disorders

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • chronic mucocutaneous candidiasis
  • connective tissue disorders
OMIM
601158
Clinvar variants
Variants in MAPK8
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

17 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: mapk8 has been classified as Red List (Low Evidence).

2 Sep 2020, Gel status: 0

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

Boaz Palterer (University of Florence)

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