Dystonia - childhood onset

Gene: PDHX

Red List (low evidence)

PDHX (pyruvate dehydrogenase complex component X)
EnsemblGeneIds (GRCh38): ENSG00000110435
EnsemblGeneIds (GRCh37): ENSG00000110435
OMIM: 608769, Gene2Phenotype
PDHX is in 14 panels

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History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

19 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

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