Genes in panel

Hereditary ataxia - adult onset

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 16 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple reports in literature - found in association with cardiomyopathy and multiple other features
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria type V, 610198

History Filter Activity

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 3-methylglutaconic aciduria type V, 610198 for gene: DNAJC19

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DNAJC19.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to DNAJC19.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

15 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: DNAJC19 was added gene: DNAJC19 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC19 were set to 27604308; 16055927; 27426421; 22797137; 27928778 Phenotypes for gene: DNAJC19 were set to dilated cardiomyopathy with ataxia (DCMA) syndrome; 3-methylglutaconic aciduria, type V 610198