Hereditary ataxia with onset in adulthood
Gene: DNAJC5EnsemblGeneIds (GRCh38): ENSG00000101152
EnsemblGeneIds (GRCh37): ENSG00000101152
OMIM: 611203, Gene2Phenotype
DNAJC5 is in 12 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
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.
Louise Daugherty (Genomics England Curator)
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.
Tracy Lester (Genetics laboratory, Oxford UK)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Ceroid neuronal lipofuscinosis 4, Parry type, 162350
- Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
- OMIM
- 611203
- Clinvar variants
- Variants in DNAJC5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Ataxia and cerebellar anomalies - narrow panel
- Neuronal ceroid lipofuscinosis
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to DNAJC5.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Ceroid neuronal lipofuscinosis 4, Parry type, 162350 for gene: DNAJC5
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DNAJC5.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to DNAJC5.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)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