Ataxia - adult onset

Gene: PDYN

Green List (high evidence)

Comment when marking as ready: The presence of some of these variants in the population is concerning. However, functional data also supports gene-disease association.

Created: 26 Apr 2022, 10:15 a.m. | Last Modified: 26 Apr 2022, 10:15 a.m.

Panel Version: 0.13346

Green List (high evidence)

PMID 23471613 Jezierska et al 2013 - report 3 missense variants of unclear significance and 1 PTC (x4 submissions ClinVar VUS and x1 likely pathogenic) in a French cohort of individuals with ataxia - absent from 400 matched controls.

PMID 25595316 Saigoh et al 2014 - report 2 Japanese siblings with adult-onset ataxia and R213H variant (gnomAD v2 6 hets, 0 him).

PMID 23108490 Fawcett et al 2013 - report heterozygous C22Y variant in an individual with slowly progressive ataxia from the age of 22. Variant present in gnomAD v2 - 5 hets, 1 hom.

PMID 22287014 Fogel et al 2012 - report heterozygous c.G414T p.R138S in an individual with adult-onset ataxia. Classified as pathogenic/likely pathogenic multiple submissions to ClinVar. 17 hets, 0 how gnomAD v2.

PMID 22243190 Schicks et al 2011 - PDYN variants not identified in 314 German families with AD adult-onset ataxia.

PMID 21035104 Balkinen et al 2020 - report heterozygous PDYN missense variants associated with ataxia in 4 unrelated Dutch families.

Created: 26 Apr 2022, 3:59 a.m. | Last Modified: 26 Apr 2022, 3:59 a.m.

Panel Version: 0.13312

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 23 - MIM#610245

Publications

• 20301317
• 23471613
• 23108490
• 22243190
• 22287014