PEX12

peroxisomal biogenesis factor 12
OMIM: 601758, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green PEX12 in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.16

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger), 614859
  • Peroxisome biogenesis disorder 3B 266510

Green PEX12 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger) 614859
  • Peroxisome biogenesis disorder 3B 266510

Green PEX12 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Peroxisome biogenesis disorder 3B, 266510
  • Peroxisome biogenesis disorder 3A (Zellweger), 614859

Green PEX12 in White matter disorders and cerebral calcification - narrow panel


Version 1.206
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Peroxisome-Associated Disorders & Zellweger Syndrome
    • Peroxisome biogenesis disorder 3A (Zellweger)
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Peroxisome biogenesis disorder 3B
    • Peroxisome biogenesis disorder 3A,B

    Green PEX12 in Cholestasis


    Version 1.88
    Latest signed off version: v1.21 (20 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • NHS GMS
    Phenotypes
    • Peroxisome biogenesis disorder 3B 266510
    • Peroxisome biogenesis disorder 3A (Zellweger) 614859

    Green PEX12 in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.85
    Latest signed off version: v2.76 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Peroxisome biogenesis disorder 3A (Zellweger)
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3
    • Peroxisome biogenesis disorder

    Green PEX12 in White matter disorders - adult onset


    Version 1.31
    Latest signed off version: v1.25 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Peroxisome biogenesis disorder 3A, 614859
    • Peroxisome biogenesis disorder 3B, 266510

    Red PEX12 in Ductal plate malformation


    Version 1.18

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen, Expert list
    Phenotypes
    • Peroxisome biogenesis disorder 3B (266510)
    • Peroxisome biogenesis disorder 3A (Zellweger) (614859)

    Green PEX12 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.92
    Latest signed off version: v2.2 (25 Feb 2020)

    Component of the following Super Panels:

  • Cerebral malformations
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 3A (Zellweger), 614859
    • Peroxisome biogenesis disorder 3B, 266510

    Green PEX12 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.141

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Peroxisome-Associated Disorders & Zellweger Syndrome
    • Peroxisome biogenesis disorder 3A,B
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Peroxisome biogenesis disorder 3A (Zellweger)
    • Peroxisome biogenesis disorder 3B

    Green PEX12 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.129
    Latest signed off version: v3.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Peroxisome biogenesis disorder 3A (Zellweger) 614859

    Green PEX12 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 3A (Zellweger), 614859
    • Peroxisome biogenesis disorder 3B

    Green PEX12 in Inborn errors of metabolism


    Version 2.187
    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
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Disorders of peroxisome biogenesis
    • Peroxisome biogenesis disorder 3A (Zellweger), 614859
    • Peroxisome biogenesis disorder 3B

    Green PEX12 in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ZELLWEGER SYNDROME
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3

    Green PEX12 in DDG2P


    Version 2.49
    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
    • ZELLWEGER SYNDROME 214100
    • PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 601758

    Amber PEX12 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Literature
    Phenotypes
    • Peroxisome biogenesis disorder 3A (Zellweger) 614859

    Green PEX12 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    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 Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Peroxisome biogenesis disorder 3A (Zellweger), 614859Peroxisome biogenesis disorder 3B, 266510
    • ZELLWEGER SYNDROME (ZWS)

    Red PEX12 in Structural eye disease


    Version 1.83
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Peroxisome biogenesis disorder 3B, 266510

    Red PEX12 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green PEX12 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Peroxisome biogenesis disorder 3A (Zellweger), 614859
    • Peroxisome biogenesis disorder 3B, 266510