Liver Failure_Paediatric

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene disease association.

Reports of presentations with liver failure.
Sources: Expert list
Created: 1 Nov 2020, 12:45 a.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, MIM# 311250

Publications

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
  • Expert list
Phenotypes
  • Ornithine transcarbamylase deficiency, MIM# 311250
OMIM
300461
Clinvar variants
Variants in OTC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: otc has been classified as Green List (High Evidence).

1 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: otc has been classified as Green List (High Evidence).

1 Nov 2020, Gel status: 1

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 Acute Liver Failure_Paediatric. Sources: Expert list 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 28887792; 25902754 Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, MIM# 311250 Review for gene: OTC was set to GREEN