Liver Failure_Paediatric
Gene: TALDO1EnsemblGeneIds (GRCh38): ENSG00000177156
EnsemblGeneIds (GRCh37): ENSG00000177156
OMIM: 602063, Gene2Phenotype
TALDO1 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Typical features include intrauterine growth restriction, triangular face, loose wrinkly skin at birth, and development of progressive liver failure. More than 5 unrelated families reported.
Sources: Expert listCreated: 1 Nov 2020, 7:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Transaldolase deficiency, MIM#606003
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Transaldolase deficiency, MIM#606003
- OMIM
- 602063
- Clinvar variants
- Variants in TALDO1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: taldo1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: taldo1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TALDO1 was added gene: TALDO1 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TALDO1 were set to 29923087; 23315216; 26238251; 18331807 Phenotypes for gene: TALDO1 were set to Transaldolase deficiency, MIM#606003 Review for gene: TALDO1 was set to GREEN