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  3. FMO3
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Miscellaneous Metabolic Disorders

Gene: FMO3

Green List (high evidence)
FMO3 (flavin containing monooxygenase 3)
EnsemblGeneIds (GRCh38): ENSG00000007933
EnsemblGeneIds (GRCh37): ENSG00000007933
OMIM: 136132, Gene2Phenotype
FMO3 is in 5 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 GMS
Created: 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

Created: 4 Feb 2021, 3:20 a.m.

Panel version: 0.140

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odour resulting from deficiency of dimethylglycine dehydrogenase
Created: 28 Feb 2020, 5:46 a.m. | Last Modified: 28 Feb 2020, 5:46 a.m.
Panel Version: 0.1479
Created: 28 Feb 2020, 5:46 a.m.
Last Modified: 28 Feb 2020, 5:46 a.m.
Panel version: Imported from Mendeliome panel version 0.1479

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

LOF proven
Created: 27 Feb 2020, 10:54 p.m. | Last Modified: 27 Feb 2020, 10:54 p.m.
Panel Version: 0.1473

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trimethylaminuria

Publications

Created: 27 Feb 2020, 10:54 p.m.
Last Modified: 27 Feb 2020, 10:54 p.m.
Panel version: Imported from Mendeliome panel version 0.1473

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trimethylaminuria MIM#602079
  • Disorders and variants of other enzymes that oxidise xenobiotics
OMIM
136132
Clinvar variants
Variants in FMO3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fmo3 has been classified as Green List (High Evidence).

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fmo3 has been classified as Green List (High Evidence).

4 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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