PEX19

Green PEX19 in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.19

Sources

• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• Expert list
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen

Phenotypes

• Peroxisome biogenesis disorder 12A (Zellweger) 614886

Green PEX19 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.24

Sources

• Expert Review Green
• Victorian Clinical Genetics Services
• Emory Genetics Laboratory

Phenotypes

• Peroxisome biogenesis disorder 12A (Zellweger) 614886

Green PEX19 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.55

Sources

• Expert Review Green
• Other

Phenotypes

• Zellweger, peroxisome biogenesis disorder 12A
• Peroxisome biogenesis disorder 12A (Zellweger), 614886

Amber PEX19 in White matter disorders and cerebral calcification - narrow panel

Version 1.240
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Amber

Phenotypes

• Peroxisome biogenesis disorder 12A (Zellweger)

Green PEX19 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.110
Latest signed off version: v2.76 (5 Aug 2021)

Sources

• Expert Review Green
• Expert list

Phenotypes

• Peroxisome biogenesis disorder

Green PEX19 in White matter disorders - adult onset

Version 1.43
Latest signed off version: v1.25 (5 Aug 2021)

Sources

• Expert Review Green
• NHS GMS
• Yorkshire and North East GLH

Phenotypes

• Peroxisome biogenesis disorder 12A (Zellweger), 614886

Red PEX19 in Ductal plate malformation

Version 1.19

Sources

• Radboud University Medical Center, Nijmegen, Expert list

Phenotypes

• Peroxisome biogenesis disorder 12A (Zellweger) (614886)

Green PEX19 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.148
Latest signed off version: v2.2 (25 Feb 2020)

Component of the following Super Panels:

Sources

• Literature
• Expert Review Green

Phenotypes

• Disorders of peroxisome biogenesis
• Peroxisome biogenesis disorder 12A (Zellweger), 614886

Amber PEX19 in Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.159

Sources

• Expert Review Amber
• Expert list

Phenotypes

• Peroxisome biogenesis disorder 12A (Zellweger) 614886

Green PEX19 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2 (13 Feb 2020)

Sources

• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• UKGTN
• Radboud University Medical Center, Nijmegen

Phenotypes

• Peroxisome biogenesis disorder 12A (Zellweger) 614886

Green PEX19 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

Sources

• Expert Review Green
• Literature

Phenotypes

• Disorders of peroxisome biogenesis
• Peroxisome biogenesis disorder 12A (Zellweger)

Green PEX19 in Inborn errors of metabolism

Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Disorders of peroxisome biogenesis
• Peroxisome biogenesis disorder 12A (Zellweger)

Green PEX19 in Fetal anomalies

Version 1.900
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ZELLWEGER SYNDROME
• PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14

Green PEX19 in DDG2P

Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ZELLWEGER SYNDROME 214100
• PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 600279

Amber PEX19 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.563
Latest signed off version: v2.2 (13 Feb 2020)

Sources

• Expert Review Amber
• Wessex and West Midlands GLH
• NHS GMS
• Literature

Phenotypes

• Peroxisome biogenesis disorder 12A (Zellweger) 614886

Green PEX19 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1659
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Peroxisome biogenesis disorder 12A (Zellweger), 614886
• ZELLWEGER SYNDROME (ZWS)

Red PEX19 in Structural eye disease

Version 1.132
Latest signed off version: v1.3 (4 Mar 2020)

Sources

• NHS GMS

Phenotypes

• Peroxisome biogenesis disorder 12A (Zellweger), 614886

Red PEX19 in Childhood onset dystonia or chorea or related movement disorder

Version 1.241
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• Expert Review Red
• London North GLH

Green PEX19 in Severe Paediatric Disorders

Version 1.127

Sources

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

Phenotypes

• Peroxisome biogenesis disorder 12A (Zellweger), 614886