Genomics England

NLR family pyrin domain containing 3

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Autoinflammatory disorders R-numbers: R413 Signed-off version 1.11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772, Familial cold inflammatory syndrome 1, OMIM:120100, Muckle-Wells syndrome, OMIM:191900, CINCA syndrome, OMIM:607115
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 4.123	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes 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
Green in Rare genetic inflammatory skin disorders R-numbers: R332 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CINCA syndrome, OMIM:607115, Muckle-Wells syndrome, OMIM:191900
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes CINCA syndrome, OMIM:607115