Hereditary ataxiaGene: DNAJC5
Considered to be appropriate for this panel by Dr Arianna Tucci (Neurology, UCL).
Associated with phenotype in OMIM, not in G2P / DD. At least 2 variants reported in at least 5 unrelated cases. Functional evidence also available
Created: 6 Feb 2017, 12:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
DNAJC5 was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Expert Review,Literature,Radboud University Medical Center, Nijmegen,UKGTN
DNAJC5 was created by sleigh