Mitochondrial disease
Gene: CPT1AEnsemblGeneIds (GRCh38): ENSG00000110090
EnsemblGeneIds (GRCh37): ENSG00000110090
OMIM: 600528, Gene2Phenotype
CPT1A is in 10 panels
2 reviews
Ain Roesley (Victorian Clinical Genetics Services)
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
Bryony Thompson (Royal Melbourne Hospital)
Hepatic carnitine palmitoyltransferase (CPT) deficiency type 1A is a disorder of mitochondrial fatty acid oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, LiteratureCreated: 21 Mar 2020, 7:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CPT deficiency, hepatic, type IA MIM#255120
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Literature
- NHS GMS
- Phenotypes
-
- CPT deficiency, hepatic, type IA MIM#255120
- Tags
- OMIM
- 600528
- Clinvar variants
- Variants in CPT1A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: CPT1A.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cpt1a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cpt1a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CPT1A was added gene: CPT1A was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT1A were set to 25778941; 12189492; 23430932 Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA MIM#255120 Review for gene: CPT1A was set to GREEN