Aminoacidopathy
Gene: OAT
OAT (ornithine aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000065154
EnsemblGeneIds (GRCh37): ENSG00000065154
OMIM: 613349, Gene2Phenotype
OAT is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000065154
EnsemblGeneIds (GRCh37): ENSG00000065154
OMIM: 613349, Gene2Phenotype
OAT is in 9 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene disease association with mouse model recapitulating human phenotype.
Classified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 10/07/2019 - https://search.clinicalgenome.org/CCID:005692
Sources: ClinGenCreated: 19 Jun 2024, 6:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ornithine aminotransferase deficiency MONDO:0009796
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- ornithine aminotransferase deficiency MONDO:0009796
- OMIM
- 613349
- Clinvar variants
- Variants in OAT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
16 Jul 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: oat has been classified as Green List (High Evidence).
16 Jul 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: oat has been classified as Green List (High Evidence).
19 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: OAT was added gene: OAT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAT were set to 609808; 23076989; 24429551; 25264521 Phenotypes for gene: OAT were set to ornithine aminotransferase deficiency MONDO:0009796 Review for gene: OAT was set to GREEN