A- or hypo-gammaglobulinaemia
Gene: TCF3Comment on phenotypes: added OMIM phenotypeCreated: 20 Apr 2018, 4:49 p.m.
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.
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
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for TCF3 were set to Agammaglobulinemia; Agammaglobulinemia 8, autosomal dominant, 616941; Primary immunodeficiency
Phenotypes for TCF3 were set to Agammaglobulinemia; Agammaglobulinemia 8, autosomal dominant, 616941
Phenotypes for TCF3 were set to Agammaglobulinemia; Agammaglobulinemia 8, autosomal dominant,616941
Publications for TCF3 were set to 24216514; 28532655
This gene has been classified as Amber List (Moderate Evidence).
Publications for TCF3 were set to PMID: 24216514; 28532655
TCF3 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Literature
TCF3 was created by osiggs