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Systemic Autoinflammatory Disease_Periodic Fever v0.181 | NLRP3 | Zornitza Stark Marked gene: NLRP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v0.181 | NLRP3 | Zornitza Stark Gene: nlrp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v0.181 | NLRP3 | Zornitza Stark Phenotypes for gene: NLRP3 were changed from to Familial cold inflammatory syndrome 1, MIM# 120100; Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772; CINCA syndrome, MIM#12032915 607115 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v0.180 | NLRP3 | Zornitza Stark Publications for gene: NLRP3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v0.179 | NLRP3 | Zornitza Stark Mode of inheritance for gene: NLRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v0.178 | NLRP3 | Zornitza Stark reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 12032915, 12483741, 28847925, 11687797; Phenotypes: Familial cold inflammatory syndrome 1, MIM# 120100, Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772, CINCA syndrome, MIM#12032915 607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Systemic Autoinflammatory Disease_Periodic Fever v0.0 | NLRP3 |
Zornitza Stark gene: NLRP3 was added gene: NLRP3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: NLRP3 was set to Unknown |