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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.186 | MAPK8 | Arina Puzriakova Classified gene: MAPK8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.186 | MAPK8 | Arina Puzriakova Added comment: Comment on list classification: Relevant phenotype for this panel, but additional cases required to validate pathogenicity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.186 | MAPK8 | Arina Puzriakova Gene: mapk8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.185 | MAPK8 | Arina Puzriakova reviewed gene: MAPK8: Rating: ; Mode of pathogenicity: None; Publications: 31784499; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | MAPK8 |
Boaz Palterer 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 Added comment: Sources: Literature |
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