PDHA1

pyruvate dehydrogenase E1 alpha 1 subunit
OMIM: 300502, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green PDHA1 in Pyruvate dehydrogenase (PDH) deficiency Version 1.36 Latest signed off version: v1.2 (17 Feb 2020)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Phenotypes PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY OMIM:312170 pyruvate dehydrogenase E1-alpha deficiency MONDO:0010717
Green PDHA1 in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.39	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Pyruvate dehydrogenase E1-alpha deficiency 312170
Green PDHA1 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Expert Review Phenotypes Microcephaly, seizures, very variable phenotype
Green PDHA1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism) Pyruvate dehydrogenase E1-alpha deficiency, 312170 Leigh syndrome, X-linked, 308930
Green PDHA1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism) Leigh syndrome, X-linked, 308930 Pyruvate dehydrogenase E1-alpha deficiency, 312170
Green PDHA1 in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Phenotypes PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170
Green PDHA1 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Pyruvate dehydrogenase E1-alpha deficiency X-LINKED LEIGH SYNDROME PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES INTELLECTUAL DISABILTIY
Green PDHA1 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILTIY 312170 X-LINKED LEIGH SYNDROME 312170 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES 312170
Green PDHA1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS London North GLH Expert Review Green Expert list
Green PDHA1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase E1-alpha deficiency 312170 X-LINKED LEIGH SYNDROME PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES INTELLECTUAL DISABILTIY
Green PDHA1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, 312170Leigh syndrome, X-linked, 308930 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES
Green PDHA1 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, 312170 Leigh syndrome, X-linked, 308930
Red PDHA1 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red NHS GMS London North GLH Phenotypes Pyruvate dehydrogenase E1-alpha deficiency 312170
Amber PDHA1 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list London North GLH NHS GMS NHS GMS London North GLH
Green PDHA1 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources PanelApp Expert Review Green London North GLH Phenotypes Pyruvate dehydrogenase E1-alpha deficiency 312170
Green PDHA1 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, 312170