Defects of intrinsic and innate immunity
Gene: TNFRSF11AEnsemblGeneIds (GRCh38): ENSG00000141655
EnsemblGeneIds (GRCh37): ENSG00000141655
OMIM: 603499, Gene2Phenotype
TNFRSF11A is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
8 patients from 7 unrelated families with severe osteoclast-poor osteopetrosis with homozygosity or compound heterozygosity for 7 different variants. The condition is associated with a defect in immunoglobulin production.
Sources: Expert listCreated: 18 Mar 2021, 11:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 7 MIM#612301
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Osteopetrosis, autosomal recessive 7 MIM#612301
- OMIM
- 603499
- Clinvar variants
- Variants in TNFRSF11A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tnfrsf11a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tnfrsf11a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TNFRSF11A was added gene: TNFRSF11A was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF11A were set to 18606301; 32048120 Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 MIM#612301 Review for gene: TNFRSF11A was set to GREEN gene: TNFRSF11A was marked as current diagnostic