Hereditary ataxia
Gene: PDYN

PDYN (prodynorphin)
EnsemblGeneIds (GRCh38): ENSG00000101327
EnsemblGeneIds (GRCh37): ENSG00000101327
OMIM: 131340, Gene2Phenotype
PDYN is in 8 panels

2 reviews

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Good evidence from OMIM and expert review
Created: 2 Feb 2016, 10:03 a.m.

Created: 2 Feb 2016, 10:03 a.m.

Panel version: 0.3

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

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

Created: 24 Nov 2015, 4:57 p.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Spinocerebellar ataxia 23

OMIM

131340

Clinvar variants

Variants in PDYN

Penetrance

Complete

Panels with this gene

History Filter Activity

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 3