| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendelian susceptibility to Immune Disorders v0.8 | MAPK8 | Zornitza Stark Marked gene: MAPK8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendelian susceptibility to Immune Disorders v0.8 | MAPK8 | Zornitza Stark Gene: mapk8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendelian susceptibility to Immune Disorders v0.8 | MAPK8 | Zornitza Stark Classified gene: MAPK8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendelian susceptibility to Immune Disorders v0.8 | MAPK8 | Zornitza Stark Gene: mapk8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendelian susceptibility to Immune Disorders v0.7 | MAPK8 |
Zornitza Stark gene: MAPK8 was added gene: MAPK8 was added to Mendelian susceptibility to Immune Disorders. Sources: Literature Mode of inheritance for gene: MAPK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAPK8 were set to 31784499 Phenotypes for gene: MAPK8 were set to Chronic mucocutaneous candidiasis; Connective tissue disorders Review for gene: MAPK8 was set to AMBER Added comment: 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 |
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