Skeletal dysplasia

Gene: OAT

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

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

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.