Adult onset neurodegenerative disorder
Gene: PDHX

PDHX (pyruvate dehydrogenase complex component X)
EnsemblGeneIds (GRCh38): ENSG00000110435
EnsemblGeneIds (GRCh37): ENSG00000110435
OMIM: 608769, Gene2Phenotype
PDHX is in 13 panels

0 reviews

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red

Phenotypes

Dystonia

OMIM

608769

Clinvar variants

Variants in PDHX

Penetrance

None

Panels with this gene

History Filter Activity

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: PDHX was added gene: PDHX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: PDHX was set to Unknown Phenotypes for gene: PDHX were set to Dystonia