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  3. PDK3
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TEST Undiagnosed metabolic disorders

Gene: PDK3

Red List (low evidence)
PDK3 (pyruvate dehydrogenase kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000067992
EnsemblGeneIds (GRCh37): ENSG00000067992
OMIM: 300906, Gene2Phenotype
PDK3 is in 6 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Literature
  • Expert Review Red
OMIM
300906
Clinvar variants
Variants in PDK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: PDK3 was added gene: PDK3 was added to TEST Undiagnosed metabolic disorders. Sources: Expert Review Red,Literature Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PDK3 were set to 27604308