PARK7

Parkinsonism associated deglycase
OMIM: 602533, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green PARK7 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.128

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Parkinson disease 7 autosomal recessive early-onset
  • 606324
Red PARK7 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Parkinson disease 7, autosomal recessive early-onset
Green PARK7 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.20
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Parkinson disease 7, autosomal recessive early-onset, OMIM:606324
Red PARK7 in Intellectual disability


Level 2: Developmental disorders
Version 9.345
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Parkinson disease 7, autosomal recessive early-onset, 606324
    Green PARK7 in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Parkinson disease 7, autosomal recessive early-onset, OMIM:606324
    Red PARK7 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.18
    Latest signed off version: v7.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • South West GLH
    Phenotypes
    • Parkinson disease 7, autosomal recessive early-onset