Pyruvate dehydrogenase (PDH) deficiency

Gene: PDHX

Green List (high evidence)

PDHX (pyruvate dehydrogenase complex component X)
EnsemblGeneIds (GRCh38): ENSG00000110435
EnsemblGeneIds (GRCh37): ENSG00000110435
OMIM: 608769, Gene2Phenotype
PDHX is in 14 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: PDHX; 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 E3-BINDING PROTEIN DEFICIENCY, 245349

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

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 12 Feb 2016, 11:31 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 12 Feb 2016, 11:30 a.m.
Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).
Created: 13 Nov 2015, 3:13 p.m.

History Filter Activity

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: PDHX was added gene: PDHX was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHX were set to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349