Hydrops fetalis
Gene: TALDO1

TALDO1 (transaldolase 1)
EnsemblGeneIds (GRCh38): ENSG00000177156
EnsemblGeneIds (GRCh37): ENSG00000177156
OMIM: 602063, Gene2Phenotype
TALDO1 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Transaldolase deficiency, MIM# 606003

Created: 22 Mar 2022, 9:06 a.m.
Last Modified: 22 Mar 2022, 9:06 a.m.
Panel version: 0.221

Abhijit Kulkarni (Healius Pathology)

Green List (high evidence)

Well established gene-disease association.
Sources: Expert list
Imported from
Created: 22 Mar 2022, 5:58 a.m. | Last Modified: 22 Mar 2022, 5:58 a.m.

Panel Version: 0.221

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal Hydrops; Oligohydromnios, IUGR; Congenital Heart Disease; Hyperechogenic bowel

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Mar 2022, 5:58 a.m.
Last Modified: 22 Mar 2022, 5:58 a.m.
Panel version: 0.221

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

Publications

Panels with this gene