Hyperammonaemia
Gene: OAT

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

2 reviews

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ornithine aminotransferase deficiency, neonatal presentation

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported. Clinical synopsis on OMIM mentions "Plasma ammonia not elevated ", however, Peter Clayton (UCL Institute of Child Health) rates OAT as a green gene
Created: 21 Nov 2016, 4:17 p.m.

Created: 18 Aug 2016, 12:39 p.m.

Panel version: 0.70

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Gyrate atrophy of choroid and retina with or without ornithinemia 258870

OMIM

613349

Clinvar variants

Variants in OAT

Penetrance

Complete

Panels with this gene