Hyperammonaemia

Gene: CPT1A

Green List (high evidence)

CPT1A (carnitine palmitoyltransferase 1A)
EnsemblGeneIds (GRCh38): ENSG00000110090
EnsemblGeneIds (GRCh37): ENSG00000110090
OMIM: 600528, Gene2Phenotype
CPT1A is in 7 panels

3 reviews

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CPT1A deficiency; hepatic presentation

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 18 Aug 2016, 10:08 a.m.

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • CPT deficiency, hepatic, type IA 255120
OMIM
600528
Clinvar variants
Variants in CPT1A
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

18 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CPT1A were set to CPT deficiency, hepatic, type IA 255120

18 Aug 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CPT1A was changed to BIALLELIC, autosomal or pseudoautosomal

18 Aug 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

CPT1A was added to Hyperammonaemiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CPT1A was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory