Hereditary ataxia
Gene: PDYNComment when marking as ready: Good evidence from OMIM and expert reviewCreated: 2 Feb 2016, 10:03 a.m.
Fine. Handful of families in lit. Mode of inheritance/pathogenicity: Dominant negative?Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 23
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene PDYN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PDYN was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene PDYN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PDYN was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
PDYN was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN