Prepair 1000+

Gene: TNFRSF13B

Red List (low evidence)

Does not meet criteria for inclusion in a carrier screening context

Variants in this gene which are reported in the literature have a high population frequency, including homozygotes. As such, and particularly in relation to heterozygous variants, these can be considered as contributory rather than solely causative.

Variants in this gene have been referred to as a predisposing factor in combination with other genetic and environmental factors and should not be considered as disease-causing on their own (PMID: 31681265)

Gene does not readily fit the monogenic rare disease paradigm

Created: 14 Jul 2022, 4:57 a.m. | Last Modified: 14 Jul 2022, 4:57 a.m.

Panel Version: 0.40

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 2 (MIM#240500)

Publications

• 31681265