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Severe Paediatric Disorders v1.100 NLRP3 Arina Puzriakova Phenotypes for gene: NLRP3 were changed from Keratoendothelitis fugax hereditaria, 148200; Deafness, autosomal dominant 34, with or without inflammation, 617772; CINCA syndrome, 607115; Familial cold inflammatory syndrome 1, 120100; Muckle-Wells syndrome, 191900 to CINCA syndrome, OMIM:607115; Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772; Familial cold inflammatory syndrome 1, OMIM:120100; Muckle-Wells syndrome, OMIM:191900; Keratoendothelitis fugax hereditaria, OMIM:148200
Severe Paediatric Disorders v0.12 NLRP3 Louise Daugherty reviewed gene: NLRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 NLRP3 Louise Daugherty Publications for gene NLRP3 were updated from to 30847515
Severe Paediatric Disorders v0.11 NLRP3 Louise Daugherty Mode of inheritance for gene NLRP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.10 NLRP3 Louise Daugherty Added phenotypes Keratoendothelitis fugax hereditaria, 148200; Deafness, autosomal dominant 34, with or without inflammation, 617772; CINCA syndrome, 607115; Familial cold inflammatory syndrome 1, 120100; Muckle-Wells syndrome, 191900 for gene: NLRP3
Severe Paediatric Disorders v0.9 NLRP3 Louise Daugherty Added phenotypes Keratoendothelitis fugax hereditaria, 148200; Deafness, autosomal dominant 34, with or without inflammation, 617772; CINCA syndrome, 607115; Familial cold inflammatory syndrome 1, 120100; Muckle-Wells syndrome, 191900 for gene: NLRP3
Severe Paediatric Disorders v0.9 NLRP3 Louise Daugherty Added phenotypes Keratoendothelitis fugax hereditaria, 148200; Deafness, autosomal dominant 34, with or without inflammation, 617772; CINCA syndrome, 607115; Familial cold inflammatory syndrome 1, 120100; Muckle-Wells syndrome, 191900 for gene: NLRP3
Severe Paediatric Disorders v0.8 NLRP3 Louise Daugherty Added phenotypes Deafness, autosomal dominant 34, with or without inflammation, 617772; Familial cold inflammatory syndrome 1, 120100; Keratoendothelitis fugax hereditaria, 148200; CINCA syndrome, 607115; Muckle-Wells syndrome, 191900 for gene: NLRP3
Severe Paediatric Disorders v0.7 NLRP3 Louise Daugherty Source Next Generation Children Project was added to NLRP3.
Severe Paediatric Disorders v0.5 NLRP3 Louise Daugherty Source Expert Review Green was added to NLRP3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 NLRP3 Louise Daugherty gene: NLRP3 was added
gene: NLRP3 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: NLRP3 was set to