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Mackenzie's Mission_Reproductive Carrier Screening

Gene: TNFRSF13B

Green List (high evidence)

TNFRSF13B (TNF receptor superfamily member 13B)
EnsemblGeneIds (GRCh38): ENSG00000240505
EnsemblGeneIds (GRCh37): ENSG00000240505
OMIM: 604907, Gene2Phenotype
TNFRSF13B is in 6 panels

1 review

Sarah Righetti (University of New South Wales)

Red List (low evidence)

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 - unsuitable for carrier screening context.
Created: 7 Dec 2020, 10:57 p.m. | Last Modified: 7 Dec 2020, 10:57 p.m.
Panel Version: 0.49

Mode of inheritance
Other

Phenotypes
Immunodeficiency, common variable, 2, MIM#240500

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency, common variable, 2, 240500 (3)
OMIM
604907
Clinvar variants
Variants in TNFRSF13B
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNFRSF13B was added gene: TNFRSF13B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF13B were set to Immunodeficiency, common variable, 2, 240500 (3)