Fetal hydrops

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

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: 3 cases now with the additional evidence of a Chinese patient in PMID:21119539.
Created: 27 Feb 2017, 10:45 a.m.
Removed the 'Founder' tag because additional variants exist in non-Arab populations (including in a Chinese patient in PMID:21119539).
Created: 27 Feb 2017, 10:43 a.m.
Third case in PMID:21119539: Balasubramaniam et al., 2010 present a child of non-consanguineous Chinese parents who presented at birth with hydrops. He had 2 heterozygous missense mutations in TALDO1- a deletion of 3 nucleotide (Asn299.del) inherited from the father, and a c.931G>A transition (Gly311Arg) inherited from the mother. Both mutations weren't detected in 210 control alleles.
Created: 27 Feb 2017, 10:42 a.m.
Added 'founder-effect' tag as suggested in PMID:25388407 (Al-Shamsi et al., 2015) as effect appears limited to Arab population.
Created: 21 Dec 2016, 11:54 a.m.
PMID:25388407 (Al-Shamsi et al., 2015) report four Emirati patients with homozygous p.R192C missense mutation in TALDO1 gene diaplying wide phenoytpic variability, including hydrops fetalis. The mutation p.R192C was previously identified in an Arab patient, suggesting a founder effect in Arab populations. PMID:17095351 (Valayannopoulos et al., 2006) report a new sibship of 4 infants born to the same consanguineous parents, all with mutations in TALDO1; the second pregnancy was medically terminated at 28 weeks gestation because of hydrops fetalis with oligohydramnios.
Created: 21 Dec 2016, 11:52 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Transaldolase deficiency, 606003
OMIM
602063
Clinvar variants
Variants in TALDO1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Feb 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for TALDO1 were set to 23137060; 17095351; 25388407; 21119539

27 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

21 Dec 2016, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.

21 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

TALDO1 was created by rfoulger

21 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TALDO1 was added to Fetal hydropspanel. Sources: Literature