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Newborns main panel

Gene: TCF3

Green List (high evidence)
TCF3 (transcription factor 3)
EnsemblGeneIds (GRCh38): ENSG00000071564
EnsemblGeneIds (GRCh37): ENSG00000071564
OMIM: 147141, Gene2Phenotype
TCF3 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD (DN) and AR (LOF) forms of Agammaglobulinaemia are included.
Created: 26 Sep 2024, 4:18 p.m. | Last Modified: 18 Nov 2025, 3:38 p.m.
Panel Version: 0.480
Created: 26 Sep 2024, 4:18 p.m.
Last Modified: 18 Nov 2025, 3:38 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF) for autosomal recessive MOI and dominant-negative (DN) for autosomal dominant MOI.
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:28 a.m.
Panel Version: 0.146
dominant negative effect, has been reported in 5 unrelated individuals in 2 publications (PMIDs: 24216514 and 33905048) Biallelic TCF3 mutations (a large deletion and a nonsense) have been reported in 3 patients (PMIDs: 30063982 and Barbouche, et al., 2016)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 7 Jul 2023, 9:28 a.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Agammaglobulinaemia 8, autosomal recessive
Tags
special_consideration
OMIM
147141
Clinvar variants
Variants in TCF3
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: TCF3.

6 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TCF3 were changed from Agammaglobulinemia 8 to Agammaglobulinaemia 8, autosomal recessive

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Agammaglobulinemia 8 for gene: TCF3

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to TCF3. Mode of inheritance for gene TCF3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Agammaglobulinemia 8 for gene: TCF3 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to TCF3. Added phenotypes Agammaglobulinemia 8 for gene: TCF3 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to TCF3. Added phenotypes Agammaglobulinemia 8 for gene: TCF3 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: TCF3 was added gene: TCF3 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: TCF3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal