1. Panels
  2. Stroke
  3. OTC
STRs in panel
Prev Next
Regions in panel
Prev Next

Stroke

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)

Multiple reports of stroke-like episodes.
Created: 17 Mar 2021, 3:40 a.m. | Last Modified: 17 Mar 2021, 3:40 a.m.
Panel Version: 0.91

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

Created: 17 Mar 2021, 3:40 a.m.
Last Modified: 17 Mar 2021, 3:40 a.m.
Panel version: 0.91

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
  • Royal Melbourne Hospital
Phenotypes
  • Ornithine carbamoyltransferase deficiency, MIM# 311250
OMIM
300461
Clinvar variants
Variants in OTC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, 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).

17 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OTC were changed from Ornithine carbamoyltransferase deficiency to Ornithine carbamoyltransferase deficiency, MIM# 311250

17 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OTC were set to

17 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: OTC was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

22 Apr 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: OTC was added gene: OTC was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital 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 carbamoyltransferase deficiency