Skeletal dysplasia
Gene: TALDO1
Clinical features include dysmorphic facial features - ?SD. Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Transaldolase deficiency 606003
Publications
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 SDCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM. At least four variants reportedCreated: 1 Aug 2016, 8:03 a.m.
Tier 3Created: 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
Added phenotypes Transaldolase deficiency 606003 for gene: TALDO1 Publications for gene TALDO1 were changed from 25388407; 26238251 to 26238251; 25388407
Source NHS GMS was added to TALDO1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for TALDO1 were set to Transaldolase deficiency 606003
Publications for TALDO1 were set to 25388407; 26238251
Mode of inheritance for TALDO1 was changed to BIALLELIC, autosomal or pseudoautosomal
TALDO1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
TALDO1 was added to Unexplained skeletal dysplasiapanel. Sources:
TALDO1 was created by sleigh