Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
|
Level 2: Viral research
Version 1.142
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- North West GLH
- Victorian Clinical Genetics Services
- Expert Review
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review
Phenotypes
- Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
- Fever, diarrhoea, dermatitis
- Autoinflammatory Disorders
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review
Phenotypes
- {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection}, OMIM:619986
- Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
|
Version 4.52
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert Review
Phenotypes
- Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Otulin-related auto inflammatory syndrome
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
|
Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 2.1
Latest signed off version: v2.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
|