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Systemic Autoinflammatory Disease_Periodic Fever v1.4 HCK Zornitza Stark Phenotypes for gene: HCK were changed from Autoinflammatory syndrome, MONDO:0019751, HCK-related to Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296
Systemic Autoinflammatory Disease_Periodic Fever v1.3 HCK Zornitza Stark reviewed gene: HCK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Systemic Autoinflammatory Disease_Periodic Fever v0.152 HCK Zornitza Stark Marked gene: HCK as ready
Systemic Autoinflammatory Disease_Periodic Fever v0.152 HCK Zornitza Stark Gene: hck has been classified as Amber List (Moderate Evidence).
Systemic Autoinflammatory Disease_Periodic Fever v0.152 HCK Zornitza Stark Phenotypes for gene: HCK were changed from Autoinflammation to Autoinflammatory syndrome, MONDO:0019751, HCK-related
Systemic Autoinflammatory Disease_Periodic Fever v0.151 HCK Zornitza Stark Classified gene: HCK as Amber List (moderate evidence)
Systemic Autoinflammatory Disease_Periodic Fever v0.151 HCK Zornitza Stark Gene: hck has been classified as Amber List (Moderate Evidence).
Systemic Autoinflammatory Disease_Periodic Fever v0.150 HCK Peter McNaughton 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
Added comment: Single patient with supportive functional data.
Sources: Literature