Hereditary ataxia with onset in adulthood
Gene: DNAJC5
On Sheffield panel. Overlap with metabolic panel (?Batten). Only 2 DM in HGMD but 3 families in OMIM (may be related?).Created: 27 Apr 2019, 7:39 p.m.
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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.
Multiple case reports in the literature, all reported cases due to either p.Leu116del or p.Leu115Arg - functional evidence available for both variants.Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ceroid neuronal lipofuscinosis 4, Parry type, 162350
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Source London North GMS was added to DNAJC5.
Added phenotypes Ceroid neuronal lipofuscinosis 4, Parry type, 162350 for gene: DNAJC5
Source NHS GMS was added to DNAJC5.
Source Wessex and West Midlands GLH was added to DNAJC5.
Checked panel against panel constituents. Ready to promote to version 1.
gene: DNAJC5 was added gene: DNAJC5 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC5 were set to 27604308; 21820099 Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type 162350