Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
Phenotypes
- Familial cold autoinflammatory syndrome 2, OMIM:611762
|
Level 2: Viral research
Version 1.141
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- North West GLH
- Victorian Clinical Genetics Services
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- GRID V2.0
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
|
Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- GRID V2.0
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
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Familial cold autoinflammatory syndrome 2, OMIM:611762
- sensorineural hearing loss disorder, MONDO:0020678
Tags
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Familial cold autoinflammatory syndrome 2, OMIM:611762
|
Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 1.17
Latest signed off version: v1.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Familial cold autoinflammatory syndrome 2, OMIM:611762
|