Paroxysmal Dyskinesia
Gene: PDHX
Paroxysmal dystonia secondary to basal ganglia lesionsCreated: 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
PDX1 deficiencyCreated: 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 triggerCreated: 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
Gene: pdhx has been classified as Green List (High Evidence).
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)
Publications for gene: PDHX were set to
Mode of inheritance for gene: PDHX was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Gene: pdhx has been classified as Green List (High Evidence).
gene: PDHX was added gene: PDHX was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: PDHX was set to Other