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 1.142	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
Amber NLRP1 in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes AIADK AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS Tags Q4_23_promote_green
Red NLRP1 in Ductal plate malformation Version 1.29	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Phenotypes Autoinflammation with arthritis and dyskeratosis (617388)
Amber NLRP1 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber 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 Tags Q4_23_promote_green Q4_23_NHS_review