Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: TALDO1

Green List (high evidence)

TALDO1 (transaldolase 1)
EnsemblGeneIds (GRCh38): ENSG00000177156
EnsemblGeneIds (GRCh37): ENSG00000177156
OMIM: 602063, Gene2Phenotype
TALDO1 is in 8 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 7 variants reported in at least 8 cases. Variant rs727502867, shows evidence of a founder effect in Saudi Arabian families PMID 23315216
Created: 23 Feb 2017, 1:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Unexplained skeletal dysplasia

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Transaldolase deficiency
OMIM
602063
Clinvar variants
Variants in TALDO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TALDO1. Source London North GLH was added to TALDO1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TALDO1 was added gene: TALDO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TALDO1 were set to 15877206; 26238251; 21119539; 11283793; 17095351; 27604308; 18331807; 23315216 Phenotypes for gene: TALDO1 were set to Transaldolase deficiency