Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Autoinflammation with infantile enterocolitis, OMIM:616050
- ?Familial cold autoinflammatory syndrome 4, OMIM:616115
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Autoinflammation with infantile enterocolitis, OMIM:616050
|
Level 2: Viral research
Version 1.142
|
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
- Autoinflammation with infantile enterocolitis, OMIM:616050
- ?Familial cold autoinflammatory syndrome 4, OMIM:616115
- Severe enterocolitis and macrophage activation syndrome
- Autoinflammatory Disorders
|
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
|
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
- Autoinflammation with infantile enterocolitis, OMIM:616050
- ?Familial cold autoinflammatory syndrome 4, OMIM:616115
- Severe enterocolitis and macrophage activation syndrome
- Autoinflammatory Disorders
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Autoinflammation with infantile enterocolitis, OMIM:616050
- ?Familial cold autoinflammatory syndrome 4, OMIM:616115
|
Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 2.1
Latest signed off version: v2.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Autoinflammation with infantile enterocolitis, OMIM:616050
- ?Familial cold autoinflammatory syndrome 4, OMIM:616115
|