Aminoacidopathy
Gene: OTCEnsemblGeneIds (GRCh38): ENSG00000036473
EnsemblGeneIds (GRCh37): ENSG00000036473
OMIM: 300461, Gene2Phenotype
OTC is in 13 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Well established gene-disease association where affected individuals have a deficiency in carbamoyltransferase which affects the urea cycle.
Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/10/2019
https://search.clinicalgenome.org/CCID:005712
Sources: OtherCreated: 9 Jul 2024, 12:54 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 carbamoyltransferase deficiency MONDO:0010703
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
- Phenotypes
-
- ornithine carbamoyltransferase deficiency MONDO:0010703
- OMIM
- 300461
- Clinvar variants
- Variants in OTC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Additional findings_Adult
- Additional findings_Paediatric
- Prepair 1000+
- Liver Failure_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Hyperammonaemia
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: otc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: otc has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: OTC was added gene: OTC was added to Aminoacidopathy. Sources: Other 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 26059767 Phenotypes for gene: OTC were set to ornithine carbamoyltransferase deficiency MONDO:0010703 Review for gene: OTC was set to GREEN