Skeletal dysplasia
Gene: OAT

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants associated with deficiency of mitochondrial enzyme ornithine aminotransferase and elevation of plasma ornithine levels without elevation of ammonia. Characterized by ocular anomalies; however, neurological and muscular features may also be present.
Created: 28 Mar 2022, 6:52 a.m. | Last Modified: 28 Mar 2022, 6:52 a.m.

Panel Version: 0.12183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870

Publications

Created: 28 Mar 2022, 6:51 a.m.
Last Modified: 28 Mar 2022, 6:51 a.m.
Panel version: Imported from Mendeliome panel version 0.12183

Details

Sources

NHS GMS
Expert Review Red

Phenotypes

Gyrate atrophy of choroid and retina with or without ornithinemia 258870

OMIM

613349

Clinvar variants

Variants in OAT

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

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 Skeletal dysplasia. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: OAT was set to Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia 258870

Skeletal dysplasia Gene: OAT