1. Genes and Genomic Entities
  2. DNAJC19

DNAJC19

DnaJ heat shock protein family (Hsp40) member C19
OMIM: 608977, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Red DNAJC19 in Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.4

review Not set
Sources
  • Expert Review Red
  • Expert list
Green DNAJC19 in Ataxia and cerebellar anomalies - narrow panel


Version 4.64
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • 3-methylglutaconic aciduria, type V
    Green DNAJC19 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • 3-methylglutaconic aciduria, type V 610198
    • dilated cardiomyopathy with ataxia (DCMA) syndrome
    Red DNAJC19 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.85

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Red
    • Expert list
    Phenotypes
    • dilated cardiomyopathy with ataxia syndrome
    Red DNAJC19 in Optic neuropathy

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • London North GLH
    Phenotypes
    • 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 610198
    Red DNAJC19 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • 3-methylglutaconic aciduria, type V 610198
    • dilated cardiomyopathy with ataxia (DCMA) syndrome
    Green DNAJC19 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Literature
    Phenotypes
    • 3-methylglutaconic aciduria, type V 610198
    Green DNAJC19 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

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

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • 3-methylglutaconic aciduria, type V, 610198
    • Disorders of the mitochondrial import system
    • 3-methylglutaconic aciduria, type V
    Green DNAJC19 in Possible mitochondrial disorder - nuclear genes


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • 3-methylglutaconic aciduria, type V, 610198
    Amber DNAJC19 in Fetal anomalies


    Version 3.157
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE Additional Gene List
    Phenotypes
    • 3-methylglutaconic aciduria, type V 610198
    Green DNAJC19 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • 3-methylglutaconic aciduria, type V, 610198
    Green DNAJC19 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Disorders of the mitochondrial import system
    • 3-methylglutaconic aciduria, type V, 610198
    Green DNAJC19 in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • 3-methylglutaconic aciduria, type V 610198
    • dilated cardiomyopathy with ataxia (DCMA) syndrome
    • 3-methylglutaconic aciduria type V, 610198
    Green DNAJC19 in Paediatric or syndromic cardiomyopathy


    Version 3.47
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • London South GLH
    • Expert Review Green
    Phenotypes
    • dilated cardiomyopathy with ataxia syndrome
    • 3-methylglutaconic aciduria, type V, 610198
    • Disorders of the mitochondrial import system
    • 3-methylglutaconic aciduria, type V
    Red DNAJC19 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green DNAJC19 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • 3-methylglutaconic aciduria, type V, 610198