Aminoacidopathy
Gene: TDO2
TDO2 (tryptophan 2,3-dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000151790
EnsemblGeneIds (GRCh37): ENSG00000151790
OMIM: 191070, Gene2Phenotype
TDO2 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000151790
EnsemblGeneIds (GRCh37): ENSG00000151790
OMIM: 191070, Gene2Phenotype
TDO2 is in 3 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Reported in one individual to date however there is evidence that this is a benign biochemical variant with no clinical significance.
Classified Limitied by Aminoacidopathy GCEP on 17/11/2023 - https://search.clinicalgenome.org/CCID:006345
Sources: ClinGenCreated: 18 Jul 2024, 1:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
familial hypertryptophanemia MONDO:0010907
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- familial hypertryptophanemia MONDO:0010907
- OMIM
- 191070
- Clinvar variants
- Variants in TDO2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
18 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tdo2 has been classified as Red List (Low Evidence).
18 Jul 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tdo2 has been classified as Red List (Low Evidence).
18 Jul 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: TDO2 was added gene: TDO2 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: TDO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TDO2 were set to 28285122 Phenotypes for gene: TDO2 were set to familial hypertryptophanemia MONDO:0010907 Review for gene: TDO2 was set to RED