OAT

ornithine aminotransferase
OMIM: 613349, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green OAT in Cataract Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870
Green OAT in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870
Green OAT in Additional findings_Adult Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870
Red OAT in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	Not set	Sources NHS GMS Expert Review Red Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia 258870
Green OAT in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Gyrate atrophy of choroid and retina
Green OAT in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870
Red OAT in Hyperammonaemia Level 2: Metabolic disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia 258870
Red OAT in Prepair 1000+ Level 2: Screening Version 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia (MIM#258870)
Green OAT in Aminoacidopathy Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes ornithine aminotransferase deficiency MONDO:0009796
Green OAT in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870 Tags treatable metabolic