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  2. Defects of intrinsic and innate immunity
  3. TNFSF11
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Defects of intrinsic and innate immunity

Gene: TNFSF11

Green List (high evidence)
TNFSF11 (TNF superfamily member 11)
EnsemblGeneIds (GRCh38): ENSG00000120659
EnsemblGeneIds (GRCh37): ENSG00000120659
OMIM: 602642, Gene2Phenotype
TNFSF11 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases reported with osteoclast poor osteopetrosis, and a supporting null mouse model.
Sources: Expert list
Created: 19 Mar 2021, 2:11 a.m. | Last Modified: 23 Mar 2021, 1:39 a.m.
Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 2 MIM#259710

Publications

Created: 19 Mar 2021, 2:11 a.m.
Last Modified: 23 Mar 2021, 1:39 a.m.
Panel version: 0.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteopetrosis, autosomal recessive 2 MIM#259710
OMIM
602642
Clinvar variants
Variants in TNFSF11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: TNFSF11 were changed from Osteoperosis, autosomal recessive 2 MIM#259710 to Osteopetrosis, autosomal recessive 2 MIM#259710

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tnfsf11 has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: tnfsf11 has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TNFSF11 was added gene: TNFSF11 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFSF11 were set to 17632511; 32048120; 10984520 Phenotypes for gene: TNFSF11 were set to Osteoperosis, autosomal recessive 2 MIM#259710 Review for gene: TNFSF11 was set to GREEN