Miscellaneous Metabolic Disorders

Gene: TALDO1

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Sources: Expert list
Created: 31 Jan 2021, 7:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Transaldolase deficiency , MIM#606003

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
Panels with this gene

History Filter Activity

31 Jan 2021, 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).

31 Jan 2021, 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).

31 Jan 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TALDO1 was added gene: TALDO1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TALDO1 were set to Transaldolase deficiency , MIM#606003 Review for gene: TALDO1 was set to GREEN