1. Panels
  2. Dystonia - complex
  3. PNKP
STRs in panel
Prev Next
Regions in panel
Prev Next

Dystonia - complex

Gene: PNKP

Green List (high evidence)
PNKP (polynucleotide kinase 3'-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000039650
EnsemblGeneIds (GRCh37): ENSG00000039650
OMIM: 605610, Gene2Phenotype
PNKP is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Dystonia is part of this complex neurological phenotype, which also includes ataxia, oculomotor apraxia and peripheral neuropathy.
Sources: Expert list
Created: 8 Sep 2020, 11:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia-oculomotor apraxia 4, MIM# 616267

Publications

Created: 8 Sep 2020, 11:25 p.m.

Panel version: 0.115

History Filter Activity

8 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PNKP was added gene: PNKP was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNKP were set to 28552035; 25728773 Phenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, MIM# 616267 Review for gene: PNKP was set to GREEN