NLRP1

NLR family pyrin domain containing 1
OMIM: 606636, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green NLRP1 in COVID-19 research Level 2: Viral research Version 1.146	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification February 2018 London North GLH NHS GMS North West GLH NHS GMS North West GLH London North GLH IUIS Classification February 2018 Phenotypes Dyskeratosis, autoimmunity and arthritis Palmoplantar carcinoma, corneal scarring Autoinflammation with arthritis and dyskeratosis Autoinflammatory Disorders
Green NLRP1 in Rare genetic inflammatory skin disorders Level 2: Dermatology Version 4.16 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Autoinflammation with arthritis and dyskeratosis, OMIM:617388 Palmoplantar carcinoma, multiple self-healing, OMIM:615225 Tags Q1_26_MOI
Red NLRP1 in Ductal plate malformation Version 1.31	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Phenotypes Autoinflammation with arthritis and dyskeratosis (617388)
Green NLRP1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Phenotypes Autoinflammation with arthritis and dyskeratosis, OMIM:617388 ?Respiratory papillomatosis, juvenile recurrent, congenital, OMIM:618803 Palmoplantar carcinoma, multiple self-healing, OMIM:615225 {Vitiligo-associated multiple autoimmune disease susceptibility 1}, OMIM:606579