Activity
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5 actions
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.187 | MCM10 | Arina Puzriakova Classified gene: MCM10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.187 | MCM10 | 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 v2.187 | MCM10 | Arina Puzriakova Gene: mcm10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | MCM10 | Boaz Palterer edited their review of gene: MCM10: Changed phenotypes: NK Cell deficiency, primary Immunodeficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | MCM10 |
Boaz Palterer gene: MCM10 was added gene: MCM10 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: MCM10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCM10 were set to 32865517 Penetrance for gene: MCM10 were set to unknown Review for gene: MCM10 was set to AMBER Added comment: Compound heterozygous variants in minichromosomal maintenance complex member 10 (MCM10) were reported as a cause of NK-cell deficiency in a child with fatal susceptibility to CMV. Sources: Literature |
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