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Ataxia - paediatric

Gene: DNAJC19

Green List (high evidence)
DNAJC19 (DnaJ heat shock protein family (Hsp40) member C19)
EnsemblGeneIds (GRCh38): ENSG00000205981
EnsemblGeneIds (GRCh37): ENSG00000205981
OMIM: 608977, Gene2Phenotype
DNAJC19 is in 12 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple reports, disorder characterised by the onset of dilated or noncompaction cardiomyopathy in infancy or early childhood. Many patients die of cardiac failure. Other features include microcytic anemia, growth retardation, mild ataxia, mild muscle weakness, genital anomalies in males, and increased urinary excretion of 3-methylglutaconic acid. Some patients may have optic atrophy or delayed psychomotor development
Created: 5 Jan 2022, 12:23 a.m. | Last Modified: 5 Jan 2022, 12:23 a.m.
Panel Version: 0.10477

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria, type V MIM#610198

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Jan 2022, 12:23 a.m.
Last Modified: 5 Jan 2022, 12:23 a.m.
Panel version: Imported from Mendeliome panel version 0.10477

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type V 610198
  • dilated cardiomyopathy with ataxia (DCMA) syndrome
  • 3-methylglutaconic aciduria type V, 610198
OMIM
608977
Clinvar variants
Variants in DNAJC19
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DNAJC19 was added gene: DNAJC19 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198; dilated cardiomyopathy with ataxia (DCMA) syndrome; 3-methylglutaconic aciduria type V, 610198