Structural eye disease
Gene: OAT

OAT (ornithine aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000065154
EnsemblGeneIds (GRCh37): ENSG00000065154
OMIM: 613349, Gene2Phenotype
OAT is in 8 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gyrate atrophy of choroid and retina with or without ornithinemia; 258870

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Gyrate atrophy of choroid and retina with or without ornithinemia, 258870
Eye Disorders

OMIM

613349

Clinvar variants

Variants in OAT

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to OAT. Mode of inheritance for gene OAT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: OAT was added gene: OAT was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: OAT was set to Phenotypes for gene: OAT were set to Eye Disorders

Structural eye disease Gene: OAT