Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.43
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
Not set
|
Sources
- Expert Review Amber
- UKGTN
Phenotypes
- Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
|
Level 2: Viral research
Version 1.142
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- IUIS Classification February 2018
- A- or hypo-gammaglobulinaemia v1.25
- London North GLH
- GOSH PID v.8.0
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
- Familial cold autoinflammatory syndrome 3, OMIM:614468
- Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory
|
Version 4.202
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
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
- A- or hypo-gammaglobulinaemia v1.25
Phenotypes
- Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
- Familial cold autoinflammatory syndrome 3, OMIM:614468
- Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory
|
Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
- Familial cold autoinflammatory syndrome 3, OMIM:614468
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
- Familial cold autoinflammatory syndrome 3, OMIM:614468
|
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
- Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
- Familial cold autoinflammatory syndrome 3, OMIM:614468
|