TNFRSF11B:Ensemblv115

TNF receptor superfamily member 11b
OMIM: 602643, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TNFRSF11B in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders; Endocrine disorders
Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • juvenile Paget disease MONDO:0009394
  • chondrocalcinosis 1 MONDO:0010917

Green TNFRSF11B in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • NHS GMS
  • Expert Review Green
Phenotypes
  • juvenile Paget disease MONDO:0009394
  • chondrocalcinosis 1 MONDO:0010917

Green TNFRSF11B in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Paget disease of bone 5, juvenile-onset, 239000 (3)

Green TNFRSF11B in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Paget disease

Green TNFRSF11B in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Paget disease of bone 5, juvenile-onset MIM#239000

Amber TNFRSF11B in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Paget disease of bone 5, juvenile-onset MIM#239000
Tags
  • for review
  • skeletal