Osteopetrosis
Gene: TNFRSF11AComment 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
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
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
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