Paroxysmal Dyskinesia

Gene: PDHX

Green List (high evidence)

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

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)

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

History Filter Activity

22 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdhx has been classified as Green List (High Evidence).

22 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDHX were changed from to Lactic acidemia due to PDX1 deficiency, MIM# 245349; episodic dystonia; Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features)

22 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDHX were set to

22 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDHX was changed from Other to BIALLELIC, autosomal or pseudoautosomal

22 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdhx has been classified as Green List (High Evidence).

22 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance

Eunice Chan (Royal Children's Hospital)

gene: PDHX was added gene: PDHX was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: PDHX was set to Other