Hyperammonaemia

Gene: CPT2

Green List (high evidence)

CPT2 (carnitine palmitoyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 17 panels

3 reviews

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CPT2 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, 10:17 a.m.
Comment on phenotypes: Also associated with Myopathy due to CPT II deficiency 255110 and Encephalopathy, acute, infection-induced, 4, susceptibility to 614212
Created: 18 Aug 2016, 10:15 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
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • CPT deficiency, hepatic, type II 600649
  • CPT II deficiency, lethal neonatal 608836
OMIM
600650
Clinvar variants
Variants in CPT2
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: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

CPT2 was added to Hyperammonaemiapanel. Sources: Radboud University Medical Center, Nijmegen

18 Aug 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

CPT2 was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory

18 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CPT2 was changed to BIALLELIC, autosomal or pseudoautosomal

18 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CPT2 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory