GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: TNFRSF11A

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Osteopetrosis and related disorders SD gp, Osteolysis gp of SD, gene previously known as RANK. green - multiple mutations; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Osteolysis, familial expansile 174810; Osteopetrosis, autosomal recessive 7 612301; Paget disease of bone 2, early-onset 602080

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Osteolysis, familial expansile 174810
Osteopetrosis, autosomal recessive 7 612301
Paget disease of bone 2, early-onset 602080

OMIM

603499

Clinvar variants

Variants in TNFRSF11A

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: TNFRSF11A was added gene: TNFRSF11A was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: 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; Osteopetrosis, autosomal recessive 7 612301; Paget disease of bone 2, early-onset 602080

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: TNFRSF11A