A- or hypo-gammaglobulinaemia
Gene: TCF3EnsemblGeneIds (GRCh38): ENSG00000071564
EnsemblGeneIds (GRCh37): ENSG00000071564
OMIM: 147141, Gene2Phenotype
TCF3 is in 3 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: added OMIM phenotypeCreated: 20 Apr 2018, 4:49 p.m.
Olivia Niblock (Genomics England Curator)
Comment on list classification: After literature research, while participants in a study in PMID: 24216514 all had the same variant, only one patient and their family had GWAS, highlighting variant in this gene. Another study in PMID 28532655 suggests a homozygous variant in an individual from a consanguineous family.Created: 15 Aug 2017, 12:54 p.m.
Owen Siggs (Flinders University)
Four unrelated cases/families with same de novo missense variant (E555K). Suspected to be a dominant negative allele.Created: 16 May 2017, 7:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Agammaglobulinemia
Publications
- PMID: 24216514
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Agammaglobulinemia
- Agammaglobulinemia 8, autosomal dominant, 616941
- Primary immunodeficiency
- OMIM
- 147141
- Clinvar variants
- Variants in TCF3
- Penetrance
- Complete
- Publications
- 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
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TCF3 were set to Agammaglobulinemia; Agammaglobulinemia 8, autosomal dominant, 616941; Primary immunodeficiency
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TCF3 were set to Agammaglobulinemia; Agammaglobulinemia 8, autosomal dominant, 616941
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TCF3 were set to Agammaglobulinemia; Agammaglobulinemia 8, autosomal dominant,616941
Set publications
Louise Daugherty (Genomics England Curator)Publications for TCF3 were set to 24216514; 28532655
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Olivia Niblock (Genomics England Curator)Publications for TCF3 were set to PMID: 24216514; 28532655
Added New Source
Owen Siggs (Flinders University)TCF3 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Literature
Created
Owen Siggs (Flinders University)TCF3 was created by osiggs