PDHX

pyruvate dehydrogenase complex component X
OMIM: 608769, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red PDHX in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Green PDHX in Pyruvate dehydrogenase (PDH) deficiency Level 2: Mitochondrial Version 1.44 Latest signed off version: v1.41 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349
Red PDHX in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.11 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	Unknown	Sources Expert Review Red Phenotypes Dystonia
Green PDHX in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349
Green PDHX in Likely inborn error of metabolism Level 2: Metabolic Version 9.32 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349
Green PDHX in Possible mitochondrial disorder, nuclear genes Level 2: Mitochondrial Version 5.25 Latest signed off version: v5.17 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349
Green PDHX in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349
Green PDHX in DDG2P Version 8.2 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LACTICACIDEMIA DUE TO PDX1 DEFICIENCY 245349
Green PDHX in Early onset or syndromic epilepsy Level 2: Neurology Version 9.76 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349
Green PDHX in Intellectual disability Level 2: Developmental disorders Version 11.28 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Literature BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349 Tags deletions
Green PDHX in Mitochondrial disorders Level 2: Mitochondrial Version 10.25 Latest signed off version: v10.18 (12 Aug 2026) Component of the following Super Panels: Leukodystrophy, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Other Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349
Red PDHX in Dystonia, chorea or related movement disorder, adult onset Level 2: Neurology Version 6.9 Latest signed off version: v6.7 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	Not set	Sources NHS GMS South West GLH Expert Review Red Phenotypes Lacticacidemia due to PDX1 deficiency, 245349 Dystonia
Green PDHX in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert Review Green London North GLH Phenotypes Lacticacidemia due to PDX1 deficiency, 245349