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  3. IPPK
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Parkinson Disease and Complex Parkinsonism

Gene: IPPK

Red List (low evidence)
IPPK (inositol-pentakisphosphate 2-kinase)
EnsemblGeneIds (GRCh38): ENSG00000127080
EnsemblGeneIds (GRCh37): ENSG00000127080
IPPK is in 3 panels

2 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Red List (low evidence)

Cannot find evidence of association with PD. The gene does not seem to have an OMIM number and in pubmed there are no relevant publications.
Created: 14 Dec 2016, 5:27 p.m.
Created: 14 Dec 2016, 5:27 p.m.

Panel version: 0.161

Ellen McDonagh (Genomics England Curator)

"C9orf12" was submitted on the expert list. IPPK is the likely HGNC-approved symbol for this gene (C9orf12 was a previous symbol).
Created: 24 Jul 2015, 12:24 p.m.
Created: 24 Jul 2015, 12:24 p.m.

Panel version: Imported from "Complex Parkinsonism (includes pallido-pyramidal syndromes)" panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Early Onset Complex Disease
Clinvar variants
Variants in IPPK
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and further curation.

15 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Oct 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IPPK was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert

19 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IPPK was created by ellenmcdonagh