OTC

ornithine carbamoyltransferase
OMIM: 300461, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green OTC in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.21	review	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 gene-therapy-trial
Green OTC in Gene therapy clinical trials Level 3: Clinical trials Level 2: Actionable information Version 0.9	review	Not set	Sources Expert Review Green ClinicalTrials.gov Phenotypes Late-Onset OTC Deficiency
Green OTC in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	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 Literature Phenotypes Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias) Ornithine transcarbamylase deficiency, 311250 Tags gene-therapy-trial
Green OTC in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Ornithine transcarbamylase deficiency, 311250 Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias)
Red OTC in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes ORNITHINE TRANSCARBAMYLASE DEFICIENCY
Green OTC in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250
Green OTC in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.12 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes CGD Ornithine transcarbamylase deficiency, 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY Tags gene-therapy-trial
Red OTC in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green OTC in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Ornithine transcarbamylase deficiency, 311250