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 1.141

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


Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.15
Latest signed off version: v4.0 (22 Mar 2023)

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


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

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 1.24

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.52
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    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
    Tags
    • for-review
    • to_be_confirmed_NHSE
    Red TNFRSF11A in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 1.77
    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 Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteolysis, familial expansile, 174810
    • Osteopetrosis, autosomal recessive 7, 612301
    Green TNFRSF11A in Osteopetrosis

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.34
    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