Hereditary ataxia - adult onsetGene: PDYN
On Oxford and Sheffield panels. 7 DM in HGMD. SCA23 Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord (Uniprot).
Created: 27 Apr 2019, 7:39 p.m.
Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 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.
Majority of variants reported in the literature can be found in gnomAD - constraint scores are NOT consistent with either LoF or missense variants becing a cause of disease
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Spinocerebellar ataxia 23, 610245
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Red was added to PDYN. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Gene: pdyn has been classified as Amber List (Moderate Evidence).
Source London North GMS was added to PDYN.
Added phenotypes Spinocerebellar ataxia 23, 610245 for gene: PDYN
Source NHS GMS was added to PDYN.
Source Wessex and West Midlands GLH was added to PDYN.
Checked panel against panel constituents. Ready to promote to version 1.
gene: PDYN was added gene: PDYN was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23