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  3. TNFRSF11A
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Osteopetrosis

Gene: TNFRSF11A

Green List (high evidence)
TNFRSF11A (TNF receptor superfamily member 11a)
EnsemblGeneIds (GRCh38): ENSG00000141655
EnsemblGeneIds (GRCh37): ENSG00000141655
OMIM: 603499, Gene2Phenotype
TNFRSF11A is in 10 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Removing Osteolysis, familial expansile OMIM:174810 as a phenotype as it doesn't seem to have a osteopetrosis type element.
Created: 23 Mar 2021, 10:34 p.m. | Last Modified: 23 Mar 2021, 10:34 p.m.
Panel Version: 1.26
This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3
Created: 20 Aug 2020, 4:32 p.m.
Last Modified: 20 Aug 2020, 4:32 p.m.
Panel version: 0.3

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • {Paget disease of bone 2, early-onset} OMIM:602080
  • Osteopetrosis, autosomal recessive 7 OMIM:612301
OMIM
603499
Clinvar variants
Variants in TNFRSF11A
Penetrance
None
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TNFRSF11A were changed from Osteolysis, familial expansile OMIM:174810; {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301 to {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TNFRSF11A were changed from Osteolysis, familial expansile 174810; {Paget disease of bone 2, early-onset} 602080; Osteopetrosis, autosomal recessive 7 612301 to Osteolysis, familial expansile OMIM:174810; {Paget disease of bone 2, early-onset} OMIM:602080; Osteopetrosis, autosomal recessive 7 OMIM:612301

20 Aug 2020, Gel status: 3

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

Catherine Snow (Genomics England)

gene: TNFRSF11A was added gene: TNFRSF11A was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TNFRSF11A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11A were set to Osteolysis, familial expansile 174810; {Paget disease of bone 2, early-onset} 602080; Osteopetrosis, autosomal recessive 7 612301