Dilated Cardiomyopathy and conduction defects
Gene: DNAJC19EnsemblGeneIds (GRCh38): ENSG00000205981
EnsemblGeneIds (GRCh37): ENSG00000205981
OMIM: 608977, Gene2Phenotype
DNAJC19 is in 15 panels
3 reviews
Rebecca Whittington (South West GLH)
3-methylglutaconic aciduria, type V OMIM#610198Created: 25 Mar 2019, 4:30 p.m.
Seems rare but in HGMD all variants DCM and truncating and in AR DCM: Ucar (2017) JIMD Rep 35: 39 PubMed: 27928778 . May be a rare candiate gene but paediatric onsetCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Although there is sufficient evidence for this gene to be implicated in dilated cardiomyopathy with ataxia syndrome, as this is an early onset disease it is inappropriate for it to be Green on this panel.Created: 18 Dec 2017, 1:55 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Expert Review Red
- Expert list
- Phenotypes
-
- dilated cardiomyopathy with ataxia syndrome
- OMIM
- 608977
- Clinvar variants
- Variants in DNAJC19
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Left Ventricular Noncompaction Cardiomyopathy
- Mitochondrial disorders
- Fetal anomalies
- Dilated Cardiomyopathy and conduction defects
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Hereditary ataxia
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to DNAJC19.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DNAJC19 were set to 16055927; 22797137; 27604308; 27928778; 27426421
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DNAJC19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DNAJC19 were set to dilated cardiomyopathy with ataxia syndrome
Added New Source
Ellen McDonagh (Genomics England Curator)DNAJC19 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list