PanelApp (stage)
  1. Genes and Genomic Entities
  2. ATP7B

ATP7B

ATPase copper transporting beta
OMIM: 606882, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Red ATP7B in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  review Unknown
    Sources
    • Expert Review Red
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services

    Green ATP7B in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.3

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Wilson disease MIM#277900

    Red ATP7B in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Wilson disease MIM#277900

    Green ATP7B in Brain Channelopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.3

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Wilson disease, MIM# 277900

    Green ATP7B in Cholestasis


    Level 2: Gastroenterological disorders
    Version 0.240

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Wilson disease, MIM# 277900

    Green ATP7B in Incidentalome


    Version 0.301

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Red
    • Melbourne Genomics Health Alliance
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Wilson Disease (MONDO:0010200
    • MIM #277900)
    Tags
    • treatable

    Green ATP7B in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ATP7B in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Wilson disease, MIM# 277900

    Amber ATP7B in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.131

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Tremors_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Children's Hospital Neurology Department
    • Victorian Clinical Genetics Services
    Phenotypes
    • Wilson disease, MIM# 277900

    Red ATP7B in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Wilson disease 277900
    • Wilson disease, 277900

    Green ATP7B in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.235

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Wilson disease, MIM# 277900
    • Dystonia

    Amber ATP7B in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.140

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Wilson disease, 277900

    Green ATP7B in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Wilson disease, 277900 (3)

    Green ATP7B in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Wilson disease

    Green ATP7B in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Wilson disease, MIM#277900

    Green ATP7B in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Amber ATP7B in Neurodegeneration with brain iron accumulation


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.35

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    • Literature
    Phenotypes
    • Wilson disease, MIM# 277900

    Green ATP7B in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.45

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS Genomic Medicine Service
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • 277900 WILSON DISEASE

    Green ATP7B in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Wilson disease, 277900 (3)

    Green ATP7B in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Wilson disease MIM#277900
    Tags
    • treatable
    • metabolic

    Green ATP7B in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Wilson disease, MIM# 277900

    Green ATP7B in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Wilson disease, 277900 (3)