| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Vasculitis v0.74 | HCK | Zornitza Stark Marked gene: HCK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vasculitis v0.74 | HCK | Zornitza Stark Gene: hck has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vasculitis v0.74 | HCK | Zornitza Stark Classified gene: HCK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vasculitis v0.74 | HCK | Zornitza Stark Gene: hck has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vasculitis v0.73 | HCK |
Zornitza Stark 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 Added comment: Single patient with supportive functional data. Gain of function demonstrated. Sources: Expert Review |
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