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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

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The TNFRSF11A gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant condition is AR Osteopetrosis, autosomal recessive 7 MIM#612301.

Osteopetrosis (OPT) is a rare inherited bone disease characterized by a bone resorption defect, due to osteoclast malfunction or absence. This causes severe clinical abnormalities, including increased bone density, lack of bone marrow cavity, stunted growth, macrocephaly, progressive deafness, blindness, hepatosplenomegaly, and severe anemia (PMID: 36031188).

Clinical presentation is usually severe with onset in early infancy or in fetal life, although as more patients are reported, expressivity is variable (PMID: 36031188).
Created: 21 Jan 2025, 12:28 a.m. | Last Modified: 21 Jan 2025, 12:28 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 7 MIM#612301

Publications

Created: 21 Jan 2025, 12:28 a.m.
Last Modified: 21 Jan 2025, 12:28 a.m.
Panel version: 1.1257

Details

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

History Filter Activity

24 Jan 2025, 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).

24 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNFRSF11A were changed from Osteopetrosis, autosomal recessive 7, 612301 (3) to Osteopetrosis, autosomal recessive 7, MIM#612301

24 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNFRSF11A were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNFRSF11A was added gene: TNFRSF11A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, 612301 (3)