Hyperammonaemia
Gene: OATEnsemblGeneIds (GRCh38): ENSG00000065154
EnsemblGeneIds (GRCh37): ENSG00000065154
OMIM: 613349, Gene2Phenotype
OAT is in 9 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Condition characterised by isolated elevation of plasma ornithine without elevation of ammoniaCreated: 28 Mar 2022, 6:51 a.m. | Last Modified: 28 Mar 2022, 6:51 a.m.
Panel Version: 0.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Gyrate atrophy of choroid and retina with or without ornithinemia 258870
- OMIM
- 613349
- Clinvar variants
- Variants in OAT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: oat has been classified as Red List (Low Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: OAT were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: oat has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: OAT was added gene: OAT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia 258870