Sudden cardiac death - previous panel
Gene: DNAJC19EnsemblGeneIds (GRCh38): ENSG00000205981
EnsemblGeneIds (GRCh37): ENSG00000205981
OMIM: 608977, Gene2Phenotype
DNAJC19 is in 15 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- London South 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
- OMIM
- 608977
- Clinvar variants
- Variants in DNAJC19
- Penetrance
- None
- Publications
- Panels with this gene
-
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Hereditary ataxia
- Fetal anomalies
- Optic neuropathy
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DNAJC19 was added gene: DNAJC19 was added to Sudden cardiac death. Sources: London South GLH,Expert Review Amber Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC19 were set to 27426421; 27604308; 16055927; 27928778; 22797137 Phenotypes for gene: DNAJC19 were set to dilated cardiomyopathy with ataxia syndrome; 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system; 3-methylglutaconic aciduria, type V