Hereditary ataxia

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 15 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed with the internal Clinical Team that this gene should be added to this panel and promoted to Green due to sufficient evidence.
Created: 18 Dec 2017, 1:36 p.m.
PMID 27426421 describes a patient with dilated cardiomyopathy with ataxia syndrome presenting with global developmental delay, hypotonia, ataxia, and dilated cardiomyopathy and a novel pathogenic variant in this gene. PMID 27928778 describes a boy at age 2 months with dilated cardiomyopathy (initially worsening then stabilizing in the second year of life), growth failure, bilateral cryptorchidism, and facial dysmorphism. Mental and motor developmental were, respectively, moderately and severely delayed. Profound intentional tremor and dyskinesia, spasticity (particularly at the lower extremities), and dystonia were observed.
Created: 18 Dec 2017, 1:35 p.m.

History Filter Activity

18 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DNAJC19 was added to Hereditary ataxia panel. Sources: Literature

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

DNAJC19 was created by Ellen McDonagh