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  3. PDP1
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Pyruvate dehydrogenase (PDH) deficiency

Gene: PDP1

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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: PDP1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 2:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782

Created: 1 Feb 2019, 2:42 p.m.

Panel version: 0.3

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 12 Feb 2016, 11:33 a.m.
Created: 12 Feb 2016, 11:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.253

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY OMIM:608782
  • pyruvate dehydrogenase phosphatase deficiency MONDO:0012120
OMIM
605993
Clinvar variants
Variants in PDP1
Penetrance
None
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PDP1 were changed from PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782 to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY OMIM:608782; pyruvate dehydrogenase phosphatase deficiency MONDO:0012120

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: PDP1 was added gene: PDP1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDP1 were set to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782