Aminoacidopathy
Gene: FMO3
FMO3 (flavin containing monooxygenase 3)
EnsemblGeneIds (GRCh38): ENSG00000007933
EnsemblGeneIds (GRCh37): ENSG00000007933
OMIM: 136132, Gene2Phenotype
FMO3 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000007933
EnsemblGeneIds (GRCh37): ENSG00000007933
OMIM: 136132, Gene2Phenotype
FMO3 is in 5 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified Definitive by ClinGen Aminoacidopathy GCEP on 14/08/2020 - https://search.clinicalgenome.org/CCID:004868
Well established gene-disease assocation. Multiple reported individuals with an abnormality in trimethylamine metabolism.
Sources: ClinGenCreated: 24 May 2024, 1:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
trimethylaminuria MONDO:0011182
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- trimethylaminuria MONDO:0011182
- OMIM
- 136132
- Clinvar variants
- Variants in FMO3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
24 May 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fmo3 has been classified as Green List (High Evidence).
24 May 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fmo3 has been classified as Green List (High Evidence).
24 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: FMO3 was added gene: FMO3 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FMO3 were set to 31317802; 28649550 Phenotypes for gene: FMO3 were set to trimethylaminuria MONDO:0011182 Review for gene: FMO3 was set to GREEN