Skeletal dysplasia
Gene: TALDO1

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Clinical features include dysmorphic facial features - ?SD. Several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Transaldolase deficiency 606003

Publications

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TALDO1; Initial rating suggestion: green if SD
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM. At least four variants reported
Created: 1 Aug 2016, 8:03 a.m.

Created: 1 Aug 2016, 8:03 a.m.

Panel version: 0.1185

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Transaldolase deficiency 606003

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

Created: 17 Jun 2016, 8:08 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Transaldolase deficiency 606003

OMIM

602063

Clinvar variants

Variants in TALDO1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Transaldolase deficiency 606003 for gene: TALDO1 Publications for gene TALDO1 were changed from 25388407; 26238251 to 26238251; 25388407

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TALDO1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4