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  2. Newborns additional phenotypes panel 1
  3. TCF3
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Newborns additional phenotypes panel 1

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: 0.102
Created: 26 Sep 2024, 4:18 p.m.
Last Modified: 18 Nov 2025, 3:38 p.m.
Panel version: 0.100

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: 7 Jul 2023, 9:29 a.m. | Last Modified: 7 Jul 2023, 9:29 a.m.
Panel Version: 0.31
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: 7 Jul 2023, 9:28 a.m. | Last Modified: 7 Jul 2023, 9:28 a.m.
Panel Version: 0.31
Created: 7 Jul 2023, 9:28 a.m.
Last Modified: 7 Jul 2023, 9:28 a.m.
Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Agammaglobulinaemia 8, autosomal dominant
Tags
special_consideration
OMIM
147141
Clinvar variants
Variants in TCF3
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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 dominant

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

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

gene: TCF3 was added gene: TCF3 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: TCF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TCF3 were set to Agammaglobulinemia 8 Mode of pathogenicity for gene: TCF3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments