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Hearing loss

Gene: TNFRSF11B

Red List (low evidence)

TNFRSF11B (TNF receptor superfamily member 11b)
EnsemblGeneIds (GRCh38): ENSG00000164761
EnsemblGeneIds (GRCh37): ENSG00000164761
OMIM: 602643, Gene2Phenotype
TNFRSF11B is in 3 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#239000:Paget disease of bone 5, juvenile-onset[Short stature; Hearing loss, sensorineural; Angioid streaks (in some patients)Retinopathy (in some patients)Macular scarring (in some patients); Barrel chest; Paget disease of boneOsteoporosisDemineralizationOsteosclerosisIncreased fractures; Thickening of the skullSkull expansion; KyphosisAnkylosis; Bowing of the long bonesDeformities of the long bones; Delayed motor development (in some patients); Increased serum alkaline phosphatase]

Publications

Details

Sources
  • Expert
OMIM
602643
Clinvar variants
Variants in TNFRSF11B
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TNFRSF11B was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert