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Newborns main panel

Gene: CPT2

Green List (high evidence)
CPT2 (carnitine palmitoyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 15 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: From BIMDG: Some will be asymptomatic and may not present until adulthood; however these patients would be given standard "emergency regimen" management and therefore agreed appropriate to include. Consider NVD if uncertain whether to report variant(s).
Created: 25 Sep 2024, 4:12 p.m. | Last Modified: 25 Sep 2024, 4:12 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 4:12 p.m.
Last Modified: 25 Sep 2024, 4:12 p.m.
Panel version: 0.469

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:2330
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

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: CPT2.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Carnitine palmitoyltransferase II deficiency infantile for gene: CPT2

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Carnitine palmitoyltransferase II deficiency infantile for gene: CPT2

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Carnitine palmitoyltransferase II deficiency infantile for gene: CPT2

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Carnitine palmitoyltransferase II deficiency infantile for gene: CPT2

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Carnitine palmitoyltransferase II deficiency infantile for gene: CPT2

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CPT2 was added gene: CPT2 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal