Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
- Autoinflammation, lipodystrophy, and dermatosis syndrome
|
Level 2: Viral research
Version 1.141
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- IUIS Classification December 2027
- IUIS Classification February 2018
- London North GLH
- 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
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
- Autoinflammation, lipodystrophy, and dermatosis syndrome
- Contractures, panniculitis, ICC, fevers
- Autoinflammatory Disorders
- CANDLE syndrome
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.16
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
- Autoinflammation, lipodystrophy, and dermatosis syndrome
|
Version 4.195
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
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
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
- Autoinflammation, lipodystrophy, and dermatosis syndrome
- Contractures, panniculitis, ICC, fevers
- Autoinflammatory Disorders
- CANDLE syndrome
|
Version 4.50
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- Expert list
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Tags
- digenic
- Q3_23_promote_green
- Q3_23_NHS_review
|
Version 2.57
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Tags
|
Version 3.27
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
|
Version 3.140
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.181
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Red
- Expert list
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.499
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
|
Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 1.11
Latest signed off version: v1.0
(30 Nov 2022)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Tags
|