This Panel is marked as Internal
Paediatric or syndromic cardiomyopathy - previous panel
Gene: DNAJC19
DNAJC19 (DnaJ heat shock protein family (Hsp40) member C19)
EnsemblGeneIds (GRCh38): ENSG00000205981
EnsemblGeneIds (GRCh37): ENSG00000205981
OMIM: 608977, Gene2Phenotype
DNAJC19 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000205981
EnsemblGeneIds (GRCh37): ENSG00000205981
OMIM: 608977, Gene2Phenotype
DNAJC19 is in 15 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- OMIM
- 608977
- Clinvar variants
- Variants in DNAJC19
- Penetrance
- None
- Panels with this gene
-
- Left Ventricular Noncompaction Cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary ataxia
- Fetal anomalies
History Filter Activity
21 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: DNAJC19 was added gene: DNAJC19 was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal