Activity
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6 actions
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| Repeat Disorders v0.145 | MEDPSACH | Zornitza Stark Tag paediatric-onset tag was added to STR: MEDPSACH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.126 | MEDPSACH | Bryony Thompson Marked STR: MEDPSACH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.126 | MEDPSACH | Bryony Thompson Str: medpsach has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.126 | MEDPSACH | Bryony Thompson Classified STR: MEDPSACH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.126 | MEDPSACH | Bryony Thompson Str: medpsach has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.125 | MEDPSACH |
Bryony Thompson STR: MEDPSACH was added STR: MEDPSACH was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: MEDPSACH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: MEDPSACH were set to 9887340; 17133256; 21922596 Phenotypes for STR: MEDPSACH were set to Epiphyseal dysplasia, multiple, 1 MIM#132400; Pseudoachondroplasia MIM#177170 Review for STR: MEDPSACH was set to GREEN STR: MEDPSACH was marked as clinically relevant STR: MEDPSACH was marked as current diagnostic Added comment: At least 5 cases reported with 6 or 7 GAC repeats. 5 repeats is normal. Deletion/contraction of the repeat is also reported. Other SNV and small indels are reported as disease-causing in this gene. Sources: Literature |
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