PDHX

pyruvate dehydrogenase complex component X
OMIM: 608769, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green PDHX in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lacticacidemia due to PDX1 deficiency MIM#245349
Green PDHX in Mendeliome Version 1.2302	1 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 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	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 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 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 0.540	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PDHX in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	0 reviews	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 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Lacticacidemia due to PDX1 deficiency MIM#245349
Green PDHX in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.141 Component of the following Super Panels: Dystonia_Superpanel Tremors_Superpanel	2 reviews	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 0.272 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	1 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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pyruvate dehydrogenase complex deficiency
Amber PDHX in Fetal anomalies Version 1.313	1 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 1.116	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Lactic acidaemia due to PDX1 deficiency, MIM# 245349 Tags treatable metabolic