VIPAS39

Green VIPAS39 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

Sources

• Expert Review Green
• Victorian Clinical Genetics Services
• UKGTN
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory

Phenotypes

• Neonatal and Adult Cholestasis
• Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
• Arthrogryposis, Renal Dysfunction, and Cholestasis 2
• ARC syndrome
• Arthrogryposis-renal-cholestasis syndrome

Green VIPAS39 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Literature

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404

Green VIPAS39 in Cholestasis

Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Other
• NHS GMS

Phenotypes

• Arthrogryposis, Renal Dysfunction, and Cholestasis 2
• ARC syndrome
• Arthrogryposis-renal-cholestasis syndrome
• Neonatal and Adult Cholestasis
• Arthrogryposis, renal dysfunction, and cholestasis 2, 613404

Green VIPAS39 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.177

Sources

• Expert Review Green
• BRIDGE Study Tier 1 Gene

Phenotypes

• ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 1)

Green VIPAS39 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.118

Component of the following Super Panels:

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 2, 613404

Green VIPAS39 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

Sources

• Expert list
• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
• arthrogryposis, renal dysfunction and cholestasis syndrome (ARC)

Green VIPAS39 in Bleeding and platelet disorders

Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• North West GLH
• Yorkshire and North East GLH
• London South GLH
• NHS GMS
• Expert Review Green
• Wessex and West Midlands GLH

Phenotypes

• 613404 Arthrogryposis, renal dysfunction, and cholestasis 2

Red VIPAS39 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.175

Component of the following Super Panels:

Sources

• Expert Review Red
• Radboud University Medical Center, Nijmegen

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 2, 613404

Green VIPAS39 in Unexplained young onset end-stage renal disease

Version 3.40
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404

Green VIPAS39 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

Sources

• Expert Review Green
• Literature

Phenotypes

• ARC Syndrome (Other metabolic disorders)
• Arthrogryposis
• Inherited bleeding disorders

Green VIPAS39 in Likely inborn error of metabolism - targeted testing not possible

Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• London North GLH
• NHS GMS

Phenotypes

• Inherited bleeding disorders
• ARC Syndrome (Other metabolic disorders)
• Arthrogryposis

Green VIPAS39 in Fetal anomalies

Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2

Green VIPAS39 in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 613404

Green VIPAS39 in Renal tubulopathies

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.17
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert Review

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404

Amber VIPAS39 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Expert Review Amber
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Gene2Phenotype confirmed gene with ID HPO

Red VIPAS39 in Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 2 # 613404

Red VIPAS39 in Childhood onset dystonia, chorea or related movement disorder

Version 3.75
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Green VIPAS39 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 2, 613404