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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) |
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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 |