Hyperammonaemia
Gene: OTCEnsemblGeneIds (GRCh38): ENSG00000036473
EnsemblGeneIds (GRCh37): ENSG00000036473
OMIM: 300461, Gene2Phenotype
OTC is in 7 panels
3 reviews
Richard Scott (Genomics England Curator)
Comment 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.
Ellen McDonagh (Genomics England Curator)
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.
Peter Clayton (UCL Institute of Child Health)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Ornithine transcarbamylase deficiency, 311250
- Tags
- OMIM
- 300461
- Clinvar variants
- Variants in OTC
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for OTC were set to Ornithine transcarbamylase deficiency, 311250
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for OTC were set to Ornithine Transcarbamylase Deficiency; Ornithine transcarbamylase deficiency, 311250
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for OTC were set to Ornithine Transcarbamylase Deficiency; Ornithine transcarbamylase deficiency, 311250
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Richard Scott (Genomics England Curator)Publications for OTC were set to 2983225
Added New Source
Eik Haraldsdottir (Genomics England)OTC was added to Hyperammonaemiapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)OTC was added to Hyperammonaemiapanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)OTC was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)OTC was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services