PDHX

pyruvate dehydrogenase complex component X
OMIM: 608769, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green PDHX in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lacticacidemia due to PDX1 deficiency MIM#245349
Green PDHX in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lactic acidaemia due to PDX1 deficiency MIM#245349 Tags founder
Green PDHX in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Lactic acidaemia due to PDX1 deficiency MIM#245349
Green PDHX in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green
Green PDHX in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PDHX in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PDHX in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green PDHX in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.131 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lactic acidemia due to PDX1 deficiency, MIM# 245349 episodic dystonia Paroxysmal dyskinesia (exercise induced or without clear trigger isolated or with additional features)
Green PDHX in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.235 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lacticacidemia due to PDX1 deficiency MIM#245349
Green PDHX in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pyruvate dehydrogenase complex deficiency
Amber PDHX in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Lactic acidaemia due to PDX1 deficiency MIM#245349
Green PDHX in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Lactic acidaemia due to PDX1 deficiency, MIM# 245349 Tags treatable metabolic