Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: HCKComment on list classification: Single case reported to date as per review by Boaz Palterer. Rating Red until further cases emerge.Created: 18 Jul 2022, 12:36 p.m. | Last Modified: 18 Jul 2022, 12:36 p.m.
Panel Version: 2.567
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: LiteratureCreated: 25 May 2022, 1:26 p.m.
Mode of inheritance
Unknown
Phenotypes
Autoinflammatory disease; Cutaneous vasculitis; Lung inflammation; Lung fibrosis; Interstitial lung disease
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for gene: HCK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: hck has been classified as Red List (Low Evidence).
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