Miscellaneous Metabolic Disorders

Gene: OAT

Green List (high evidence)

OAT (ornithine aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000065154
EnsemblGeneIds (GRCh37): ENSG00000065154
OMIM: 613349, Gene2Phenotype
OAT is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Condition characterised by isolated elevation of plasma ornithine without elevation of ammonia
Sources: Expert Review
Created: 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

28 Mar 2022, 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).

28 Mar 2022, 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).

28 Mar 2022, Gel status: 1

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