Genomics England
GMS Panels
Panels
Genes and Entities

NLRP12

NLR family pyrin domain containing 12
OMIM: 609648
PanelMode of inheritanceDetails
3 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial cold autoinflammatory syndrome 2, OMIM:611762
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.79
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial cold autoinflammatory syndrome 2, OMIM:611762, sensorineural hearing loss disorder, MONDO:0020678
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.26
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial cold autoinflammatory syndrome 2, OMIM:611762, Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure, Preterm premature rupture of membranes (PPROM), Autoinflammatory Disorders