Genomics England

PDHX

pyruvate dehydrogenase complex component X

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Lacticacidemia due to PDX1 deficiency, 245349
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LACTICACIDEMIA DUE TO PDX1 DEFICIENCY 245349
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Lacticacidemia due to PDX1 deficiency 245349
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Lacticacidemia due to PDX1 deficiency 245349
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Lacticacidemia due to PDX1 deficiency, Pyruvate dehydrogenase E3 binding protein deficiency (Disorders of pyruvate metabolism)
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Lacticacidemia due to PDX1 deficiency
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349