Cholestasis
Gene: TALDO1
TALDO1 (transaldolase 1)
EnsemblGeneIds (GRCh38): ENSG00000177156
EnsemblGeneIds (GRCh37): ENSG00000177156
OMIM: 602063, Gene2Phenotype
TALDO1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000177156
EnsemblGeneIds (GRCh37): ENSG00000177156
OMIM: 602063, Gene2Phenotype
TALDO1 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Cholestasis is part of the phenotype.Created: 8 Dec 2024, 9:25 a.m. | Last Modified: 8 Dec 2024, 9:25 a.m.
Panel Version: 0.284
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Transaldolase deficiency, MIM# 606003
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Transaldolase deficiency, MIM# 606003
- OMIM
- 602063
- Clinvar variants
- Variants in TALDO1
- Penetrance
- None
- Panels with this gene
History Filter Activity
8 Dec 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: taldo1 has been classified as Green List (High Evidence).
8 Dec 2024, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TALDO1 were changed from to Transaldolase deficiency, MIM# 606003
8 Dec 2024, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TALDO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TALDO1 was added gene: TALDO1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TALDO1 was set to Unknown