Hyperammonaemia
Gene: CPT1A

CPT1A (carnitine palmitoyltransferase 1A)
EnsemblGeneIds (GRCh38): ENSG00000110090
EnsemblGeneIds (GRCh37): ENSG00000110090
OMIM: 600528, Gene2Phenotype
CPT1A is in 10 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood.

Well established gene-disease association.
Created: 4 May 2022, 10:12 a.m. | Last Modified: 4 May 2022, 10:12 a.m.

Panel Version: 0.13723

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CPT deficiency, hepatic, type IA, MIM# 255120

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 May 2022, 10:12 a.m.
Last Modified: 4 May 2022, 10:12 a.m.
Panel version: Imported from Mendeliome panel version 0.13723

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Genomics England PanelApp

Phenotypes

CPT deficiency, hepatic, type IA 255120

Tags

treatable

OMIM

600528

Clinvar variants

Variants in CPT1A

Penetrance

None

Panels with this gene

History Filter Activity

26 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CPT1A.

29 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CPT1A was added gene: CPT1A was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA 255120

Hyperammonaemia Gene: CPT1A