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  2. Adult onset neurodegenerative disorder
  3. IPPK
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Adult onset neurodegenerative disorder

Gene: IPPK

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

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

No evidence of association with disease
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early Onset Complex Disease

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 3:05 p.m.
Created: 23 Apr 2019, 3:05 p.m.

Panel version: 1.74

Anthony Dallosso (Bristol Genetics Laboratory)

Red List (low evidence)

No evidence of association with disease
Created: 23 Apr 2019, 2:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early Onset Complex Disease

Created: 23 Apr 2019, 2:42 p.m.

Panel version: 1.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • 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 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to IPPK.

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.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: IPPK was added gene: IPPK was added to Neurodegenerative disorders - adult onset. 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