TNFRSF11A

TNF receptor superfamily member 11a
OMIM: 603499, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green TNFRSF11A in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

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

Green TNFRSF11A in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green TNFRSF11A in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green TNFRSF11A in Osteopetrosis


Level 2: Skeletal disorders
Version 1.0

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

Green TNFRSF11A in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 2.0

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

Green TNFRSF11A in Skeletal dysplasia

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

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • NHS GMS
  • Expert Review Green
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 1.0

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

Green TNFRSF11A in Prepair 1000+


Level 2: Screening
Version 3.0

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

Green TNFRSF11A in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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