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Hereditary Neuropathy - complex

Gene: PDYN

Green List (high evidence)
PDYN (prodynorphin)
EnsemblGeneIds (GRCh38): ENSG00000101327
EnsemblGeneIds (GRCh37): ENSG00000101327
OMIM: 131340, Gene2Phenotype
PDYN is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 23 (MIM#610245)

Created: 8 Aug 2023, 6:45 a.m.
Last Modified: 8 Aug 2023, 6:45 a.m.
Panel version: 0.231

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

PMID: 21035104
3 individuals with heterozygous missense mutations in PDYN. All had SCA phenotypes with neuropathy as a clinical feature.
Created: 7 Aug 2023, 5:58 a.m. | Last Modified: 7 Aug 2023, 5:58 a.m.
Panel Version: 0.215

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 23 (MIM#610245)

Publications

Created: 7 Aug 2023, 5:58 a.m.
Last Modified: 7 Aug 2023, 5:58 a.m.
Panel version: 0.215

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia 23 (MIM#610245)
  • Cerebellar ataxia, sensory-motor axonal neuropathy
  • Spinocerebellar ataxia 23
OMIM
131340
Clinvar variants
Variants in PDYN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdyn has been classified as Green List (High Evidence).

8 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDYN were changed from Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23 to Spinocerebellar ataxia 23 (MIM#610245); Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23

8 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDYN were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PDYN was added gene: PDYN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,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 Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23