Possible mitochondrial disorder - nuclear genes
Gene: PDP1
PDP1 (pyruvate dehyrogenase phosphatase catalytic subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000164951
EnsemblGeneIds (GRCh37): ENSG00000164951
OMIM: 605993, Gene2Phenotype
PDP1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000164951
EnsemblGeneIds (GRCh37): ENSG00000164951
OMIM: 605993, Gene2Phenotype
PDP1 is in 9 panels
4 reviews
Ivone Leong (Genomics England Curator)
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.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782
- OMIM
- 605993
- Clinvar variants
- Variants in PDP1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Structural basal ganglia disorders
- Pyruvate dehydrogenase (PDH) deficiency
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
4 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 Possible mitochondrial disorder - nuclear genes. 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