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Prepair 1000+

Gene: OAT

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Generally later onset of visual impairment. Intellect usually normal.
Created: 26 Aug 2022, 6:11 a.m. | Last Modified: 26 Aug 2022, 6:11 a.m.
Panel Version: 0.157

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

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.

There is evidence of intra-familial variability.
Sources: Literature
Created: 26 Jul 2022, 2:45 a.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 Red
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

9 Sep 2022, Gel status: 1

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: OAT.

26 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: oat has been classified as Red List (Low Evidence).

26 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: oat has been classified as Red List (Low Evidence).

28 Jul 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: OAT.

26 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

gene: OAT was added gene: OAT was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAT were set to 33463379; 34340878 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 AMBER