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Skeletal dysplasia

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Limb hypoplasia-reduction defects gp of SD - several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Gyrate atrophy of choroid and retina with or without ornithinemia 258870

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Leaving red for now as no skeletal involvement found in publications found to date.
Created: 11 Dec 2019, 6:10 p.m. | Last Modified: 11 Dec 2019, 6:10 p.m.
Panel Version: 1.288
Associated with Gyrate atrophy of choroid and retina with or without ornithinemia #258870 (AR) in OMIM but no skeletal phenotypes listed in clinical features.

This gene is not listed in Bonafe et al 2015 (Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision) PMID: 26394607 or Mortier et al 2019 (Nosology and classification of genetic skeletal disorders: 2019 revision). PMID: 31633310

A PubMed search did not find any relevant publications.
Created: 20 Nov 2019, 1:53 p.m. | Last Modified: 20 Nov 2019, 4:10 p.m.
Panel Version: 1.220
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: OAT; Initial rating suggestion: green if SD
Created: 6 Mar 2019, 11:36 a.m.

History Filter Activity

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

6 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia 258870 for gene: OAT

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: OAT was added gene: OAT was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: OAT was set to