Hyperammonaemia
Gene: OTCComment on phenotypes: "Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonaemia due to" removed as per Peter Clayton review 5/11/15Created: 17 Dec 2015, 11:22 a.m.
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:50 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.
The phenotype should not include Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonaemia due to Although clinical phenotype may be similar (hyperammonaemic encephalopathy) , laboratory results (e.g. urine orotic acid, enzymology) and mode of inheritance from family history are differentCreated: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Ornithine Transcarbamylase Deficiency; Ornithine transcarbamylase deficiency, 311250
Promoted to version 1 on 22nd November 2016
Phenotypes for OTC were set to Ornithine transcarbamylase deficiency, 311250
Phenotypes for OTC were set to Ornithine Transcarbamylase Deficiency; Ornithine transcarbamylase deficiency, 311250
Phenotypes for OTC were set to Ornithine Transcarbamylase Deficiency; Ornithine transcarbamylase deficiency, 311250
This gene has been classified as Green List (High Evidence).
Publications for OTC were set to 2983225
OTC was added to Hyperammonaemiapanel. Sources: Radboud University Medical Center, Nijmegen
OTC was added to Hyperammonaemiapanel. Sources: UKGTN
OTC was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory
OTC was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services