| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v0.370 | Bryony Thompson Copied STR COMP_MEDPSACH_GAC from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.370 | COMP_MEDPSACH_GAC |
Bryony Thompson STR: COMP_MEDPSACH_GAC was added STR: COMP_MEDPSACH_GAC was added to Skeletal dysplasia. Sources: Expert Review Green,Literature paediatric-onset tags were added to STR: COMP_MEDPSACH_GAC. Mode of inheritance for STR: COMP_MEDPSACH_GAC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: COMP_MEDPSACH_GAC were set to 9887340; 17133256; 21922596 Phenotypes for STR: COMP_MEDPSACH_GAC were set to Epiphyseal dysplasia, multiple, 1 MIM#132400; Pseudoachondroplasia MIM#177170 |
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