Miscellaneous Metabolic Disorders
Gene: FMO3
Well-established gene-disease association (see OMIM entry). Trimethylaminuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of the metabolism of xenobiotics.
Sources: NHS GMSCreated: 4 Feb 2021, 3:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trimethylaminuria MIM#602079; Disorders and variants of other enzymes that oxidise xenobiotics
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odour resulting from deficiency of dimethylglycine dehydrogenaseCreated: 28 Feb 2020, 5:46 a.m. | Last Modified: 28 Feb 2020, 5:46 a.m.
Panel Version: 0.1479
Gene: fmo3 has been classified as Green List (High Evidence).
Gene: fmo3 has been classified as Green List (High Evidence).
gene: FMO3 was added gene: FMO3 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FMO3 were set to 27604308; 9536088 Phenotypes for gene: FMO3 were set to Trimethylaminuria MIM#602079; Disorders and variants of other enzymes that oxidise xenobiotics Review for gene: FMO3 was set to GREEN gene: FMO3 was marked as current diagnostic