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  2. Adult onset dystonia, chorea or related movement disorder
  3. PDP1
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Adult onset dystonia, chorea or related movement disorder

Gene: PDP1

Red List (low evidence)
PDP1 (pyruvate dehyrogenase phosphatase catalytic subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000164951
EnsemblGeneIds (GRCh37): ENSG00000164951
OMIM: 605993, Gene2Phenotype
PDP1 is in 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Created: 13 Aug 2019, 11:57 a.m. | Last Modified: 13 Aug 2019, 11:57 a.m.
Panel Version: 0.100
Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Created: 13 Aug 2019, 11:48 a.m. | Last Modified: 13 Aug 2019, 11:48 a.m.
Panel Version: 0.99
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.100

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Pyruvate dehydrogenase phosphatase deficiency onset in infancy
Created: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.98

History Filter Activity

13 Aug 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to PDP1. Rating Changed from Green List (high evidence) to Red List (low evidence)

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PDP1.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PDP1.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, 608782

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PDP1 was added gene: PDP1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDP1 were set to 19184109; 15855260