Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
CPT2 deficiency; hepatic presentation
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.
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.
Promoted to version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
CPT2 was added to Hyperammonaemiapanel. Sources: Radboud University Medical Center, Nijmegen
CPT2 was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory
Mode of inheritance for CPT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836
CPT2 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory