1. Genes and Genomic Entities
  2. DNAJC5

DNAJC5

DnaJ heat shock protein family (Hsp40) member C5
OMIM: 611203, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
No list DNAJC5 in Parkinson Disease and Complex Parkinsonism

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350
Green DNAJC5 in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.84

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Green DNAJC5 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4, Parry type
    Green DNAJC5 in Lysosomal storage disorder


    Level 2: Metabolic
    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • North London GLH
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350
    • neuronal ceroid lipofuscinosis 4B MONDO:0008083
    Green DNAJC5 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Radboud University Medical Center, Nijmegen
    • Expert Review
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • UKGTN
    • Literature
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
    Green DNAJC5 in Neuronal ceroid lipofuscinosis


    Level 2: Metabolic
    Version 3.2
    Latest signed off version: v3.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350
    • neuronal ceroid lipofuscinosis 4B MONDO:0008083
    Green DNAJC5 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4, Parry type, OMIM:162350
    Green DNAJC5 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.642

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Literature
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
    Green DNAJC5 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
    Amber DNAJC5 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Other
    • Literature
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
    • autosomal dominant Kufs disease
    • generalized tonic–clonic seizures
    Green DNAJC5 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Ceroid neuronal lipofuscinosis 4, Parry type, 162350
    • Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
    Amber DNAJC5 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350