Haematological malignancies cancer susceptibility
Gene: TCF3EnsemblGeneIds (GRCh38): ENSG00000071564
EnsemblGeneIds (GRCh37): ENSG00000071564
OMIM: 147141, Gene2Phenotype
TCF3 is in 3 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. Additional comments from reviewing GLHs: no clinical guidelines to manage the findings.Created: 12 Mar 2026, 9:51 a.m. | Last Modified: 12 Mar 2026, 9:51 a.m.
Panel Version: 4.39
Comment on mode of inheritance: Updated MOI to monoallelic - PMID: 36576946 states that 'The allele fraction of each variant in each sample was confirmed to be ∼50%, consistent with a heterozygous genotype.'Created: 30 Oct 2025, 2:22 p.m. | Last Modified: 30 Oct 2025, 2:22 p.m.
Panel Version: 4.35
Sarah Leigh (Genomics England Curator)
PMID: 36576946 report twelve rare germline TCF3 variants in patients with B-cell acute lymphoblastic leukemia (B-ALL). The authors regard these variants as deleterious, and 6/7 variants tested significantly reduced expression in luciferase assays (PMID: 36576946). Additional rare deleterious germlineTCF3 variants have been reported in B-ALL patients (PMID: 37129918), leading to the hypothesis that such variants may contribute to B-ALL susceptibility.Created: 7 May 2025, 2:06 p.m. | Last Modified: 7 May 2025, 2:06 p.m.
Panel Version: 4.8
Phenotypes
B-cell acute lymphoblastic leukemia, MONDO:0004947
Lauma Freimane (Children's Clinical University Hospital)
Autors hypothesize that variants in TCF3 gene alter B-cell maturation which may increase the risk for preleukemic clone emergence (PMID: 36576946).
Sources: LiteratureCreated: 12 Jun 2023, 2:11 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
B-cell acute lymphoblastic leukemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- B-cell acute lymphoblastic leukemia, MONDO:0004947
- OMIM
- 147141
- Clinvar variants
- Variants in TCF3
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_25_ promote_green was removed from gene: TCF3. Tag Q2_25_expert_review was removed from gene: TCF3.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TCF3 were changed from B-cell acute lymphoblastic leukemia to B-cell acute lymphoblastic leukemia, MONDO:0004947
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: TCF3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_25_ promote_green tag was added to gene: TCF3. Tag Q2_25_expert_review tag was added to gene: TCF3.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: TCF3 were set to 36576946
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: tcf3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Lauma Freimane (Children's Clinical University Hospital)gene: TCF3 was added gene: TCF3 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: TCF3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TCF3 were set to 36576946 Phenotypes for gene: TCF3 were set to B-cell acute lymphoblastic leukemia Penetrance for gene: TCF3 were set to unknown Review for gene: TCF3 was set to GREEN gene: TCF3 was marked as current diagnostic