Miscellaneous Metabolic Disorders
Gene: OATEnsemblGeneIds (GRCh38): ENSG00000065154
EnsemblGeneIds (GRCh37): ENSG00000065154
OMIM: 613349, Gene2Phenotype
OAT is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Condition characterised by isolated elevation of plasma ornithine without elevation of ammonia
Sources: Expert ReviewCreated: 28 Mar 2022, 9:10 p.m.
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 Green
- Expert Review
- Phenotypes
-
- Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#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 Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: oat has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: OAT was added gene: OAT was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAT were set to 33068755; 1618792; 2220818; 3339136; 3417397; 2916581; 1737786; 33463379 Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870 Review for gene: OAT was set to GREEN