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Fetal anomalies

Gene: TNFRSF11A

Green List (high evidence)

TNFRSF11A (TNF receptor superfamily member 11a)
EnsemblGeneIds (GRCh38): ENSG00000141655
EnsemblGeneIds (GRCh37): ENSG00000141655
OMIM: 603499, Gene2Phenotype
TNFRSF11A is in 11 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

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.

Although antenatal diagnosis not specifically reported for this gene, diagnosis of severe osteopetrosis antenatally and during early infancy has been reported, including cases with no causative variants identified (PMID 23085203)
Created: 2 Dec 2021, 3:56 a.m. | Last Modified: 2 Dec 2021, 3:56 a.m.
Panel Version: 0.886

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 7 - MIM# 612301

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Osteopetrosis, autosomal recessive 7 - MIM# 612301
OMIM
603499
Clinvar variants
Variants in TNFRSF11A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfrsf11a has been classified as Green List (High Evidence).

2 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tnfrsf11a has been classified as Green List (High Evidence).

2 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: TNFRSF11A was added gene: TNFRSF11A was added to Fetal anomalies. Sources: Literature 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 AMBER