Osteopetrosis
Gene: TNFSF11EnsemblGeneIds (GRCh38): ENSG00000120659
EnsemblGeneIds (GRCh37): ENSG00000120659
OMIM: 602642, Gene2Phenotype
TNFSF11 is in 5 panels
1 review
Eleanor Williams (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Osteopetrosis, autosomal recessive 2 OMIM:259710
- OMIM
- 602642
- Clinvar variants
- Variants in TNFSF11
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: TNFSF11 were changed from Osteopetrosis, autosomal recessive 2 259710 to Osteopetrosis, autosomal recessive 2 OMIM:259710
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Catherine Snow (Genomics England)gene: TNFSF11 was added gene: TNFSF11 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2 259710