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  3. HCK
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Vasculitis

Gene: HCK

Amber List (moderate evidence)
HCK (HCK proto-oncogene, Src family tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000101336
EnsemblGeneIds (GRCh37): ENSG00000101336
OMIM: 142370, Gene2Phenotype
HCK is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single patient with supportive functional data. Gain of function demonstrated.
Sources: Expert Review
Created: 30 Mar 2023, 11:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296

Publications

Mode of pathogenicity
Other

Created: 30 Mar 2023, 11:22 p.m.

Panel version: 0.73

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296
OMIM
142370
Clinvar variants
Variants in HCK
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

30 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hck has been classified as Amber List (Moderate Evidence).

30 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hck has been classified as Amber List (Moderate Evidence).

30 Mar 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HCK was added gene: HCK was added to Vasculitis. Sources: Expert Review Mode of inheritance for gene: HCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HCK were set to 34536415 Phenotypes for gene: HCK were set to Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296 Mode of pathogenicity for gene: HCK was set to Other Review for gene: HCK was set to AMBER