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Skeletal dysplasia

Gene: TNFSF11

Green List (high evidence)

TNFSF11 (TNF superfamily member 11)
EnsemblGeneIds (GRCh38): ENSG00000120659
EnsemblGeneIds (GRCh37): ENSG00000120659
OMIM: 602642, Gene2Phenotype
TNFSF11 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple families and mouse model.
Created: 7 Apr 2022, 1:12 a.m. | Last Modified: 7 Apr 2022, 1:12 a.m.
Panel Version: 0.12705

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 2, MIM# 259710

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 2 259710
OMIM
602642
Clinvar variants
Variants in TNFSF11
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNFSF11 was added gene: TNFSF11 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2 259710