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  3. TNFRSF11A
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Skeletal dysplasia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

8 individuals 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.
Created: 2 Dec 2021, 6:19 a.m. | Last Modified: 2 Dec 2021, 6:19 a.m.
Panel Version: 0.10009

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 7 - MIM# 612301; Osteolysis, familial expansile, MIM# 174810

Publications

Created: 2 Dec 2021, 6:19 a.m.
Last Modified: 2 Dec 2021, 6:19 a.m.
Panel version: 0.292

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteolysis, familial expansile 174810
  • Paget disease of bone 2, early-onset 602080
  • Osteopetrosis, autosomal recessive 7 612301
OMIM
603499
Clinvar variants
Variants in TNFRSF11A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Nov 2024, 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).

6 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TNFRSF11A were set to

6 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TNFRSF11A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Dec 2019, 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 Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green Mode of inheritance for gene: TNFRSF11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNFRSF11A were set to Osteolysis, familial expansile 174810; Paget disease of bone 2, early-onset 602080; Osteopetrosis, autosomal recessive 7 612301