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Pulmonary fibrosis familial

Gene: HCK

Red List (low evidence)
HCK (HCK proto-oncogene, Src family tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000101336
EnsemblGeneIds (GRCh37): ENSG00000101336
OMIM: 142370, Gene2Phenotype
HCK is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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
Created: 18 Jul 2022, 12:36 p.m.
Last Modified: 18 Jul 2022, 12:36 p.m.
Copied from panel: Primary immunodeficiency v2.568

Boaz Palterer (University of Florence)

Red List (low evidence)

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
Created: 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

Created: 25 May 2022, 1:26 p.m.

Copied from panel: Primary immunodeficiency v2.568

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Autoinflammatory disease
  • Cutaneous vasculitis
  • Lung inflammation
  • Lung fibrosis
  • Interstitial lung disease
OMIM
142370
Clinvar variants
Variants in HCK
Penetrance
unknown
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
Panels with this gene

History Filter Activity

18 Jul 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

gene: HCK was added gene: HCK was added to Pulmonary fibrosis familial. Sources: Literature,Expert Review Red Mode of inheritance for gene: HCK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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