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Primary immunodeficiency or monogenic inflammatory bowel disease v2.568 | HCK | Arina Puzriakova Mode of inheritance for gene: HCK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.567 | HCK | Arina Puzriakova Classified gene: HCK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.567 | HCK | Arina Puzriakova Added comment: Comment on list classification: Single case reported to date as per review by Boaz Palterer. Rating Red until further cases emerge. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.567 | HCK | Arina Puzriakova Gene: hck has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.550 | HCK |
Boaz Palterer gene: HCK was added gene: HCK was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: HCK was set to Unknown Publications for gene: HCK were set to 34536415 Phenotypes for gene: HCK were set to Autoinflammatory disease; Cutaneous vasculitis; Lung inflammation; Lung fibrosis; Interstitial lung disease Penetrance for gene: HCK were set to unknown Mode of pathogenicity for gene: HCK was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: HCK was set to RED Added comment: Kanderova et al. described a single patient with an autoinflammatory phenotype characterized by early-onset cutaneous vasculitis and lung inflammation leading to fibrosis. A de novo truncating mutation (p.Tyr515*) in the HCK leading to the loss of the C-terminal inhibitory tyrosine Tyr522 was identified. Variant pathogenicity was confirmed ex vivo in primary cells and in vitro in transduced cell lines. Sources: Literature |