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Newborns main panel

Gene: CPT1A

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:2328
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Carnitine palmitoyltransferase I deficiency
OMIM
600528
Clinvar variants
Variants in CPT1A
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Carnitine palmitoyltransferase I deficiency for gene: CPT1A

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Carnitine palmitoyltransferase I deficiency for gene: CPT1A

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Carnitine palmitoyltransferase I deficiency for gene: CPT1A

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Carnitine palmitoyltransferase I deficiency for gene: CPT1A

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Carnitine palmitoyltransferase I deficiency for gene: CPT1A

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CPT1A was added gene: CPT1A was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal