Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.19
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Peroxisome biogenesis disorder 8A, (Zellweger), 614876
- Zellweger Syndrome
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- Peroxisomal biogenesis disorders
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Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
Phenotypes
- Peroxisome biogenesis disorder 8A (Zellweger) 614876
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Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
Phenotypes
- Peroxisome biogenesis disorder 8B, 614877
- Peroxisome biogenesis disorder 8A, (Zellweger), 614876
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Version 3.31
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Peroxisome-Associated Disorders & Zellweger Syndrome
- Peroxisome biogenesis disorder 8A, (Zellweger)
- Peroxisome biogenesis disorder 8B
- PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
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Version 4.58
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Zellweger syndrome (614876)
- Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.9
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- Peroxisome biogenesis disorder 8A, (Zellweger)
- Peroxisome biogenesis disorder
|
Version 3.24
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Peroxisome biogenesis disorder 8A (Zellweger), 614876
- Peroxisome biogenesis disorder 8B, 614877
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
- Zellweger syndrome (614876)
|
Version 1.28
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Radboud University Medical Center, Nijmegen, Expert list
Phenotypes
- Peroxisome biogenesis disorder 8A (Zellweger) (614876)
- Peroxisome biogenesis disorder 8B (614877)
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.25
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Literature
- Expert Review Green
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 8A, (Zellweger), 614876
- Zellweger Syndrome
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- Peroxisomal biogenesis disorders
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.179
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Peroxisome-Associated Disorders & Zellweger Syndrome
- Peroxisome biogenesis disorder 8A, (Zellweger)
- Peroxisome biogenesis disorder 8B
- PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Peroxisome biogenesis disorder 8A (Zellweger) 614876
|
Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- Zellweger syndrome (614876)
- Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome biogenesis disorder 8A, (Zellweger), 614876
- Zellweger Syndrome
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- Peroxisomal biogenesis disorders
|
Version 4.134
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Disorders of peroxisome biogenesis
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- Peroxisome biogenesis disorder 8A, (Zellweger), 614876
- Peroxisomal biogenesis disorders
- Zellweger Syndrome
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
- ZELLWEGER SYNDROME
|
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
- ZELLWEGER SYNDROME 214100
- PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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 Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Peroxisome biogenesis disorder 8A, (Zellweger), 614876Peroxisome biogenesis disorder 8B, 614877
- PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 (PBD-CG9)
|
Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Zellweger syndrome (614876)
- Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
- Peroxisome biogenesis disorder 8B, 614877
- Peroxisome biogenesis disorder 8A, 614876
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Peroxisome biogenesis disorder 8B, 614877
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Peroxisome biogenesis disorder 8A (Zellweger), 614876
- Peroxisome biogenesis disorder 8B, 614877
|