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Prepair 1000+

Gene: OTC

Green List (high evidence)

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

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle, which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.

HGNC approved symbol/name: OTC
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 3 Mar 2025, 4:57 a.m. | Last Modified: 3 Mar 2025, 4:57 a.m.
Panel Version: 1.1566

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Ornithine transcarbamylase deficiency, MIM# 311250

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ornithine transcarbamylase deficiency, 311250 (3)
OMIM
300461
Clinvar variants
Variants in OTC
Penetrance
None
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Ornithine transcarbamylase deficiency, 311250 (3) for gene: OTC

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OTC was added gene: OTC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250 (3)