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| Genomic screening in children: BabyScreen+ v0.53 | TNFRSF11B | Lilian Rudd Marked gene: TNFRSF11B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.53 | TNFRSF11B | Lilian Rudd Gene: tnfrsf11b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.53 | TNFRSF11B | Lilian Rudd Classified gene: TNFRSF11B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.53 | TNFRSF11B | Lilian Rudd Gene: tnfrsf11b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.52 | TNFRSF11B |
Lilian Rudd gene: TNFRSF11B was added gene: TNFRSF11B was added to Genomic screening in children: BabyScreen+. Sources: Expert list Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF11B were set to PMID: 29080812; 25108083; 34166796 Phenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset MIM#239000 Review for gene: TNFRSF11B was set to GREEN Added comment: Strong gene disease association Causes generalised rapid bone turnover due to osteoprotogerin (OPG) deficiency Short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness - also vascular risk of calcification and aneurysms Variable age of onset - mostly early childhood but with bi-allelic missense can be later onset Treatment evidence is from case reports or case series only. Bisphosphanates - available and if started early alter disease course recombinant OPG - available in clinical trials for other indications only denosumab - monoclonal antibody - tried in a handful of patients, not sufficient evidence in children. Sources: Expert list |
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