Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.24
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Neonatal and Adult Cholestasis
- Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
- Arthrogryposis, Renal Dysfunction, and Cholestasis 1
- Arthrogryposis, Renal Dysfunction, And Cholestasis 1
- Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
- ARC syndrome
- arthrogryposis-renal-cholestasis syndrome
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Version 5.352
Latest signed off version: v5.43
(4 Mar 2020)
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review
|
Unknown
|
Sources
Phenotypes
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.36
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
|
Version 1.110
Latest signed off version: v1.21
(20 Aug 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- NHS GMS
Phenotypes
- arthrogryposis-renal-cholestasis syndrome
- Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
- Arthrogryposis, Renal Dysfunction, and Cholestasis 1
- Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
- ARC syndrome
- Neonatal and Adult Cholestasis
- Arthrogryposis, Renal Dysfunction, And Cholestasis 1
|
Version 1.18
Latest signed off version: v1.3
(15 Oct 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Arthrogryposis, renal dysfunction, and cholestasis syndrome
|
Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.172
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 2)
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.113
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Arthrogryposis, renal dysfunction, and cholestasis 1 208085
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2
(13 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert list
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Arthrogryposis, Renal Dysfunction, And Cholestasis 1
- arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.89
Latest signed off version: v2.2
(2 Mar 2020)
Component of the following Super Panels:
Hypotonic infant
Neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- London South GLH
- Expert Review
Phenotypes
- vacuolar myopathy
- Arthrogryposis renal dysfunction, and cholestasis 1, 208085
|
Version 1.43
Latest signed off version: v1.2
(3 Mar 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 208085 Arthrogryposis, renal dysfunction, and cholestasis 1
|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.169
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
- Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
- Arthrogryposis, renal dysfunction, and cholestasis
|
Version 1.37
Latest signed off version: v1.2
(4 Mar 2020)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
- Arthrogryposis, renal dysfunction, and cholestasis 1
- Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
- Arthrogryposis, renal dysfunction, and cholestasis
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- ARC Syndrome (Other metabolic disorders)
- Arthrogryposis
- CAKUT
- Inherited bleeding disorders
- Unexplained kidney failure in young people
|
Version 2.263
Latest signed off version: v2.3
(17 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Inherited bleeding disorders
- Unexplained kidney failure in young people
- CAKUT
- ARC Syndrome (Other metabolic disorders)
- Arthrogryposis
|
Version 1.880
Latest signed off version: v1.92
(21 Aug 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
|
Version 2.76
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.62
Latest signed off version: v2.23
(16 Oct 2020)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
|
Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 2.77
Latest signed off version: v2.32
(16 Oct 2020)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
Not set
|
Sources
Phenotypes
- Arthrogryposis, renal dysfunction, and cholestasis 1 #208085
|
Version 1.240
Latest signed off version: v1.137
(5 Aug 2021)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.127
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
|