Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |