PDHA1

pyruvate dehydrogenase E1 alpha 1 subunit
OMIM: 300502, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Red PDHA1 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	1 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 Literature Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
Green PDHA1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	2 reviews	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-alpha deficiency MIM#312170
Green PDHA1 in Mendeliome Version 1.3512	1 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 Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170
Green PDHA1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.357	1 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 Expert list Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
Green PDHA1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170
Green PDHA1 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 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 Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170
Green PDHA1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PDHA1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PDHA1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 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 Genetic Health Queensland Phenotypes Pyruvate dehydrogenase E1-alpha deficiency MIM#312170
Green PDHA1 in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.144 Component of the following Super Panels: Dystonia_Superpanel Tremors_Superpanel	3 reviews	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 Expert Review Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170 Paroxysmal dyskinesia (exercise induced or without clear trigger
Green PDHA1 in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.288 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	1 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-alpha deficiency MIM#312170
Green PDHA1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.40 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170
Green PDHA1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Pyruvate dehydrogenase E1-alpha deficiency
Green PDHA1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Pyruvate dehydrogenase deficiency
Green PDHA1 in Fetal anomalies Version 1.465	1 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 Genomics England PanelApp Literature Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170
Green PDHA1 in Prepair 1000+ Level 2: Screening Version 2.14	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)
Green PDHA1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	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 BabySeq Category A gene Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170 Tags treatable metabolic
Green PDHA1 in Prepair 500+ Level 2: Screening Version 2.0	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission Phenotypes Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)