TNFRSF11A

TNF receptor superfamily member 11a
OMIM: 603499, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green TNFRSF11A in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • London North GLH
  • NHS GMS
  • North West GLH
  • IUIS Classification December 2019
  • North West GLH
  • London North GLH
  • NHS GMS
  • IUIS Classification February 2018
Phenotypes
  • Osteopetrosis
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
Green TNFRSF11A in Hydrocephalus


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Osteopetrosis, autosomal recessive 7, OMIM:612301
Red TNFRSF11A in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review Not set
Sources
  • Expert List
Amber TNFRSF11A in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Amber
  • North West GLH
  • London North GLH
  • NHS GMS
  • IUIS Classification February 2018
Phenotypes
  • Osteopetrosis
  • Defects in Intrinsic and Innate Immunity
  • Defects in intrinsic and innate immunity
Red TNFRSF11A in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Paget disease of bone
  • Polyostotic osteolytic dysplasia (hereditary expansile)
  • Osteosarcoma
Green TNFRSF11A in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Osteolysis, familial expansile 174810
    • Osteopetrosis, autosomal recessive 7 612301
    • Paget disease of bone 2, early-onset 602080
    Amber TNFRSF11A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Osteopetrosis, autosomal recessive 7, OMIM:612301
    Red TNFRSF11A in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    Red TNFRSF11A in Sarcoma susceptibility


    Level 2: Cancer susceptibility
    Version 1.82
    Latest signed off version: v1.2 (18 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert Review Red
    • Expert list
    Phenotypes
    • {Paget disease of bone 2, early-onset}, OMIM:602080
    • Osteosarcoma (disease), MONDO:0009807
    Green TNFRSF11A in Osteopetrosis


    Level 2: Musculoskeletal
    Version 1.38
    Latest signed off version: v1.1 (21 Sep 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • {Paget disease of bone 2, early-onset} OMIM:602080
    • Osteopetrosis, autosomal recessive 7 OMIM:612301