Neonatal cholestasis

Gene: TALDO1

Green List (high evidence)

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

4 reviews

Anna de Burca (Genomics England Curator)

Anna de Burca (Genomics England Curator)

Comment on list classification: Presumed pathogenic variants in TALDO1 have been reported in 34 cases from 25 families. 11 variants have been reported, most of which are homozygous in affected individuals, who are usually from consanguineous families. One variant, c.574C>T (p.R192C), is thought to show a founder effect although haplotype analysis has not been carried out. Biochemical analysis (urine polyols and/or TALDO activity) was carried out in the majority of cases and was supportive of a pathogenic effect of the variants in all cases. Phenotypic variability is reported, however liver cirrhosis (with or without deranged liver function) was present in a significant proportion of cases, particularly those which presented neonatally (77%). Liver dysfunction in TALDO1 deficiency does not seem to be typically associated with cholestasis, however the clinical presentation is often with neonatal liver dysfunction, which is included in the scope of this panel.
Created: 29 Aug 2018, 8:55 a.m.

Eleanor Williams (Genomics England Curator)

Genomics England clinical team have confirmed that Transaldolase deficiency is relevant to the neonatal cholestasis panel.
Created: 3 Sep 2018, 8:30 p.m.
Checking with Genomics England clinical team of relevance of the Transaldolase deficiency to this panel.
Created: 16 Aug 2018, 8:37 a.m.
Comment on publications: Added publications from OMIM
Created: 16 Aug 2018, 8:35 a.m.
In OMIM TALDO1 is associated with Transaldolase deficiency. Evidence comes from Verhoeven et al. (2001) (PMID: 11283793) who report deficiency of transaldolase in the first child of healthy, consanguineous Turkish parents. The patient presented with liver cirrhosis and hepatosplenomegaly during early infancy. A homozygous 3-bp deletion, resulting in the absence of serine at position 171 of the transaldolase protein was identified. Eyaid et al. (2013) (PMID: 23315216) reported 12 cases of transaldolase deficiency from 6 families. All had a single-bp deletion at c.793delC, which resulted in a frameshift with premature termination. All patients had multiple clinical features including hepatosplenomegaly, anemia, and thrombocytopenia. Seven of 12 had liver dysfunction. All 12 cases were diagnosed as children.
Created: 16 Aug 2018, 8:35 a.m.

Louise Daugherty (Genomics England Curator)

I don't know

Comment on mode of inheritance: added MOI from literature and OMIM
Created: 27 Jul 2018, 10:19 a.m.
Comment on phenotypes: added phenotypes from OMIM
Created: 27 Jul 2018, 10:19 a.m.
TALDO1 is on the King's College Hospital NHS Foundation Trust diagnostic cholestasis gene panel for Transaldolase deficiency.
Created: 25 Jul 2018, 4:25 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Transaldolase deficiency, 606003
OMIM
602063
Clinvar variants
Variants in TALDO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

29 Aug 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TALDO1 were set to 11283793; 23315216; 29721915; 24097415; 25388407; 19299175; 21119539; 18331807

29 Aug 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TALDO1 were set to 11283793; 23315216; 29721915; 24097415; 25388407; 19299175; 21119539; 11283793; 18331807

29 Aug 2018, Gel status: 3

Set publications

Anna de Burca (Genomics England Curator)

Publications for gene: TALDO1 were set to 11283793; 23315216; 29721915; 24097415; 25388407

29 Aug 2018, Gel status: 3

Set publications

Anna de Burca (Genomics England Curator)

Publications for gene: TALDO1 were set to 11283793; 23315216; 29721915; 24097415

29 Aug 2018, Gel status: 3

Set publications

Anna de Burca (Genomics England Curator)

Publications for gene: TALDO1 were set to 11283793; 23315216; 29721915

29 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: taldo1 has been classified as Green List (High Evidence).

29 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: taldo1 has been classified as Green List (High Evidence).

16 Aug 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TALDO1 were set to 11283793; 23315216

27 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: TALDO1 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TALDO1 were set to Transaldolase deficiency, 606003

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TALDO1 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services

21 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TALDO1 was created by Ellen McDonagh