Genes in panel

Adult onset movement disorder

Gene: IPPK

Red List (low evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:24 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Unable to find any evidence that this gene is associated with disease.
Created: 23 Apr 2019, 12:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Early Onset Complex Disease
Clinvar variants
Variants in IPPK
Penetrance
None
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to IPPK.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to IPPK.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: IPPK was added gene: IPPK was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: IPPK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IPPK were set to Early Onset Complex Disease