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Inborn errors of metabolism

Gene: OTC

Green List (high evidence)

OTC (ornithine carbamoyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000036473
EnsemblGeneIds (GRCh37): ENSG00000036473
OMIM: 300461, Gene2Phenotype
OTC is in 9 panels

1 review

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/412
Created: 14 May 2018, 9:50 a.m.

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
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ornithine transcarbamylase deficiency, 311250
  • Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias)
OMIM
300461
Clinvar variants
Variants in OTC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to OTC. Source London North GLH was added to OTC.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: OTC was added gene: OTC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: OTC were set to 27604308 Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250; Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias)