Hyperammonaemia
Gene: OTC

OTC (ornithine carbamoyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000036473
EnsemblGeneIds (GRCh37): ENSG00000036473
OMIM: 300461, Gene2Phenotype
OTC is in 13 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene disease association
Created: 29 Mar 2022, 12:54 a.m. | Last Modified: 29 Mar 2022, 12:54 a.m.

Panel Version: 0.12224

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 - MIM#311250

Created: 29 Mar 2022, 12:54 a.m.
Last Modified: 29 Mar 2022, 12:54 a.m.
Panel version: Imported from Mendeliome panel version 0.12224

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
Genomics England PanelApp

Phenotypes

Ornithine transcarbamylase deficiency, 311250

OMIM

300461

Clinvar variants

Variants in OTC

Penetrance

None

Publications

2983225

Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OTC was added gene: OTC was added to Hyperammonaemia. Sources: Genomics England PanelApp,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 2983225 Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250

Hyperammonaemia Gene: OTC