Skeletal dysplasia
Gene: TNFSF11
Osteopetrosis and related disorders SD gp, green - 4 mutations described, at least 3 cases; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 2 259710
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TNFSF11; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:52 a.m.
Comment when marking as ready: At least three variants reported in this phenotypeCreated: 12 Jul 2016, 2:08 p.m.
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 2 259710
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Osteopetrosis, autosomal recessive 2 259710 for gene: TNFSF11
Source NHS GMS was added to TNFSF11. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for TNFSF11 were set to Osteopetrosis, autosomal recessive 2 259710
Mode of inheritance for TNFSF11 was changed to BIALLELIC, autosomal or pseudoautosomal
TNFSF11 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TNFSF11 was created by sleigh
TNFSF11 was added to Unexplained skeletal dysplasiapanel. Sources: