Autoinflammatory Disorders
Gene: HCK
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296
Single patient with supportive functional data.
Sources: LiteratureCreated: 13 Jul 2022, 10:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoinflammation
Publications
Mode of pathogenicity
Other
Phenotypes for gene: HCK were changed from Autoinflammatory syndrome, MONDO:0019751, HCK-related to Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296
Gene: hck has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: HCK were changed from Autoinflammation to Autoinflammatory syndrome, MONDO:0019751, HCK-related
Gene: hck has been classified as Amber List (Moderate Evidence).
gene: HCK was added gene: HCK was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: HCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HCK were set to PMID: 34536415 Phenotypes for gene: HCK were set to Autoinflammation Mode of pathogenicity for gene: HCK was set to Other Review for gene: HCK was set to AMBER