Hereditary ataxiaGene: DNAJC19
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.
This gene has been classified as Green List (High Evidence).
DNAJC19 was added to Hereditary ataxia panel. Sources: Literature
DNAJC19 was created by Ellen McDonagh