Paroxysmal Dyskinesia
Gene: PDHX

PDHX (pyruvate dehydrogenase complex component X)
EnsemblGeneIds (GRCh38): ENSG00000110435
EnsemblGeneIds (GRCh37): ENSG00000110435
OMIM: 608769, Gene2Phenotype
PDHX is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Paroxysmal dystonia secondary to basal ganglia lesions
Created: 22 Apr 2020, 7:42 a.m. | Last Modified: 22 Apr 2020, 7:42 a.m.

Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lactic acidemia due to PDX1 deficiency, MIM# 245349; episodic dystonia

Publications

Created: 22 Apr 2020, 7:39 a.m.
Last Modified: 22 Apr 2020, 7:39 a.m.
Panel version: 0.15

Eunice Chan (Royal Children's Hospital)

PDX1 deficiency
Created: 22 Apr 2020, 5:04 a.m. | Last Modified: 22 Apr 2020, 5:04 a.m.

Panel Version: 0.10

Less common but can present with a phenotype of episodic dystonia triggered by exercise or without a clear trigger
Created: 22 Apr 2020, 5:01 a.m. | Last Modified: 22 Apr 2020, 5:01 a.m.

Panel Version: 0.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features); mitochondrial disorder (Leigh syndrome, ataxia); neurodevelopmental disability; epilepsy.

Publications

Schiff et al 2006 Ann Neurol 59(4):709-14 (PMID: 1656
6017)

Created: 22 Apr 2020, 5:01 a.m.
Last Modified: 22 Apr 2020, 5:01 a.m.
Panel version: 0.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Lactic acidemia due to PDX1 deficiency, MIM# 245349
episodic dystonia
Paroxysmal dyskinesia (exercise induced or without clear trigger
isolated or with additional features)

OMIM

608769

Clinvar variants

Variants in PDHX

Penetrance

None

Publications

Panels with this gene