Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
CPT1A deficiency; hepatic presentation
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 18 Aug 2016, 10:08 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).
Phenotypes for CPT1A were set to CPT deficiency, hepatic, type IA 255120
Mode of inheritance for CPT1A was changed to BIALLELIC, autosomal or pseudoautosomal
CPT1A was added to Hyperammonaemiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
CPT1A was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory