PDHA1

pyruvate dehydrogenase E1 alpha 1 subunit
OMIM: 300502
PanelMode of inheritanceDetails
10 panels
R-numbers: R57
Signed-off version 1.137
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency 312170
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
INTELLECTUAL DISABILTIY 312170, X-LINKED LEIGH SYNDROME 312170, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES 312170
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency, X-LINKED LEIGH SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, INTELLECTUAL DISABILTIY
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency 312170, X-LINKED LEIGH SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, INTELLECTUAL DISABILTIY
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism), Leigh syndrome, X-linked, 308930, Pyruvate dehydrogenase E1-alpha deficiency, 312170
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency, 312170Leigh syndrome, X-linked, 308930, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency, 312170, Leigh syndrome, X-linked, 308930
R-numbers: R63
Signed-off version 1.17
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170
R-numbers: R316
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170
R-numbers: R88
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Microcephaly, seizures, very variable phenotype