| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v0.313 | TNFRSF11B | Bryony Thompson Marked gene: TNFRSF11B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.313 | TNFRSF11B | Bryony Thompson Gene: tnfrsf11b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.313 | TNFRSF11B | Bryony Thompson Phenotypes for gene: TNFRSF11B were changed from Paget disease of bone 5, juvenile-onset 239000; Paget disease of bone 5, juvenile-onset 239000 to juvenile Paget disease MONDO:0009394; chondrocalcinosis 1 MONDO:0010917 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.312 | TNFRSF11B | Bryony Thompson Publications for gene: TNFRSF11B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.311 | TNFRSF11B | Bryony Thompson Mode of inheritance for gene: TNFRSF11B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.310 | TNFRSF11B | Bryony Thompson reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24743232, 40735895, 29578045, 33559312, 33989379, 35412619; Phenotypes: chondrocalcinosis 1 MONDO:0010917; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | TNFRSF11B |
Zornitza Stark gene: TNFRSF11B was added gene: TNFRSF11B was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset 239000; Paget disease of bone 5, juvenile-onset 239000 |
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