Rare genetic inflammatory skin disorders
Gene: NLRP3
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:NLRP3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14
Phenotypes for gene: NLRP3 were changed from CINCA SYNDROME, OMIM:607115 to CINCA syndrome, OMIM:607115; Muckle-Wells syndrome, OMIM:191900
Phenotypes for gene: NLRP3 were changed from CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; CINCA SYNDROME; FCAS1 to CINCA SYNDROME, OMIM:607115
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)
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