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| Rare genetic inflammatory skin disorders v1.48 | NLRP3 | Arina Puzriakova Phenotypes for gene: NLRP3 were changed from CINCA SYNDROME, OMIM:607115 to CINCA syndrome, OMIM:607115; Muckle-Wells syndrome, OMIM:191900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v1.24 | NLRP3 | Ivone Leong Phenotypes for gene: NLRP3 were changed from CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; CINCA SYNDROME; FCAS1 to CINCA SYNDROME, OMIM:607115 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.22 | NLRP3 |
Catherine Snow Source Expert Review Green was added to NLRP3. Added phenotypes FCAS1; CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; CINCA SYNDROME for gene: NLRP3 Publications for gene NLRP3 were changed from to 11687797; 12032915 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rare genetic inflammatory skin disorders v0.21 | NLRP3 | Tom Cullup reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11687797, 12032915; Phenotypes: CINCA SYNDROME, CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1, FCAS1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.14 | NLRP3 | Catherine Snow reviewed gene: NLRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v0.13 | NLRP3 |
Catherine Snow gene: NLRP3 was added gene: NLRP3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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