TNFRSF11A

TNF receptor superfamily member 11a
OMIM: 603499, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green TNFRSF11A in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.230

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Osteopetrosis, autosomal recessive 7 - MIM# 612301

Green TNFRSF11A in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 7, MIM# 612301

Green TNFRSF11A in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green TNFRSF11A in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 7 - MIM# 612301

Green TNFRSF11A in Osteopetrosis


Level 2: Skeletal disorders
Version 0.34

review Unknown
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green TNFRSF11A in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 1.20

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteopetrosis, autosomal recessive 7 MIM#612301

    Green TNFRSF11A in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Osteolysis, familial expansile 174810
    • Paget disease of bone 2, early-onset 602080
    • Osteopetrosis, autosomal recessive 7 612301

    Green TNFRSF11A in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Osteopetrosis, autosomal recessive 7, 612301 (3)

    Green TNFRSF11A in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Osteopetrosis, autosomal recessive 7 - MIM# 612301

    Green TNFRSF11A in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Osteopetrosis, autosomal recessive 7, MIM#612301

    Green TNFRSF11A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Osteopetrosis, autosomal recessive 7 - MIM# 612301
    Tags
    • treatable
    • skeletal