PEX5

Green PEX5 in Peroxisomal disorders

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

Sources

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

Phenotypes

• Peroxisome biogenesis disorder 2A (Zellweger) 214110
• Peroxisome biogenesis disorder 2B 202370

Red PEX5 in Neonatal cholestasis

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

Sources

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

Phenotypes

• Peroxisome biogenesis disorder 2A (Zellweger) 214110

Green PEX5 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

Sources

• Expert Review Green
• Other

Phenotypes

• Peroxisome biogenesis disorder 2B, 202370
• Peroxisome biogenesis disorder 2A (Zellweger) , 214110

Green PEX5 in White matter disorders and cerebral calcification - narrow panel

Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Peroxisome biogenesis disorder 2A (Zellweger)

Green PEX5 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Expert Review

Phenotypes

• Peroxisome biogenesis disorder 2A (Zellweger)
• Peroxisome biogenesis disorder 2B
• Rhizomelic chondrodysplasia punctata, type 5

Green PEX5 in Adult onset leukodystrophy

Version 3.24
Latest signed off version: v3.0 (22 Mar 2023)

Sources

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

Phenotypes

• Peroxisome biogenesis disorder 2B, 202370
• Peroxisome biogenesis disorder 2A (Zellweger), 214110

Red PEX5 in Ductal plate malformation

Version 1.29

Sources

• Radboud University Medical Center, Nijmegen, Expert list

Phenotypes

• Peroxisome biogenesis disorder 2B (202370)
• Peroxisome biogenesis disorder 2A (Zellweger) (214110)

Green PEX5 in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Literature
• Expert Review Green

Phenotypes

• Disorders of peroxisome biogenesis
• Peroxisome biogenesis disorder 2A (Zellweger), 214110
• Peroxisome biogenesis disorder 2B, 202370

Green PEX5 in Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180

Sources

• Expert Review Green
• Expert list

Phenotypes

• Peroxisome biogenesis disorder 2A (Zellweger) 214110
• Peroxisome biogenesis disorder 2B 202370

Green PEX5 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 Review Green
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• UKGTN

Phenotypes

• Peroxisome biogenesis disorder 2A (Zellweger) 214110

Green PEX5 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

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

Phenotypes

• Peroxisome biogenesis disorder 2A (Zellweger) 214110
• Rhizomelic chondrodysplasia punctata, type 5 616716

Green PEX5 in Undiagnosed metabolic disorders

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

Sources

• Expert Review Green
• Literature

Phenotypes

• Disorders of peroxisome biogenesis
• Peroxisome biogenesis disorder 2A (Zellweger)

Green PEX5 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

• Disorders of peroxisome biogenesis
• Peroxisome biogenesis disorder 2A (Zellweger)

Green PEX5 in Fetal anomalies

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

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ZELLWEGER SYNDROME
• ADRENOLEUKODYSTROPHY NEONATAL
• INFANTILE REFSUM DISEASE

Green PEX5 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

• ZELLWEGER SYNDROME 214100
• ADRENOLEUKODYSTROPHY NEONATAL 202370
• INFANTILE REFSUM DISEASE 266510

Amber PEX5 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

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

Phenotypes

• Peroxisome biogenesis disorder 2A (Zellweger) 214110
• Peroxisome biogenesis disorder 2B 202370
• Rhizomelic chondrodysplasia punctata, type 5 616716

Tags

• watchlist

Green PEX5 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 Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Peroxisome biogenesis disorder 2A (Zellweger), 214110Peroxisome biogenesis disorder 2B, 202370
• ADRENOLEUKODYSTROPHY NEONATAL (NALD)

Red PEX5 in Structural eye disease

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS

Phenotypes

• Peroxisome biogenesis disorder 2B, 202370

Red PEX5 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 PEX5 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Peroxisome biogenesis disorder 2A (Zellweger), 214110
• Rhizomelic chondrodysplasia punctata, type 5, 616716
• Peroxisome biogenesis disorder 2B, 202370