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  3. CPT1A
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TEST Undiagnosed metabolic disorders

Gene: CPT1A

Green List (high evidence)
CPT1A (carnitine palmitoyltransferase 1A)
EnsemblGeneIds (GRCh38): ENSG00000110090
EnsemblGeneIds (GRCh37): ENSG00000110090
OMIM: 600528, Gene2Phenotype
CPT1A is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
OMIM
600528
Clinvar variants
Variants in CPT1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: CPT1A was added gene: CPT1A was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT1A were set to 27604308