DNAJC6

DnaJ heat shock protein family (Hsp40) member C6
OMIM: 608375, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green DNAJC6 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.121

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 19b, early-onset, OMIM:615528
  • Parkinson disease 19a juvenile-onset, OMIM:615528
  • juvenile onset Parkinson disease 19A, MONDO:0014231
Green DNAJC6 in Adult onset neurodegenerative disorder


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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 19b, early-onset, OMIM:615528
  • Parkinson disease 19a juvenile-onset, OMIM:615528
  • juvenile onset Parkinson disease 19A, MONDO:0014231
Green DNAJC6 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.14
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Parkinson disease 19b, early-onset, OMIM:615528
    • Parkinson disease 19a juvenile-onset, OMIM:615528
    • juvenile onset Parkinson disease 19A, MONDO:0014231
    Green DNAJC6 in Adult onset dystonia, chorea or related movement disorder


    Version 3.19
    Latest signed off version: v3.12 (31 Jul 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Parkinson disease 19b, early-onset, OMIM:615528
    • Parkinson disease 19a juvenile-onset, OMIM:615528
    • juvenile onset Parkinson disease 19A, MONDO:0014231
    Green DNAJC6 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Parkinson disease 19b, early-onset, OMIM:615528
    • Parkinson disease 19a juvenile-onset, OMIM:615528
    • juvenile onset Parkinson disease 19A, MONDO:0014231