Genomics England
GMS Panels
Panels
Genes and Entities

NLRP1

NLR family pyrin domain containing 1
OMIM: 606636
PanelMode of inheritanceDetails
2 panels
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Green
in Rare genetic inflammatory skin disorders
R-numbers: R332
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
AIADK, AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS