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| Skeletal dysplasia v2.184 | MBTPS2 |
Eleanor Williams Tag Q3_21_rating was removed from gene: MBTPS2. Tag Q3_21_expert_review was removed from gene: MBTPS2. |
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| Skeletal dysplasia v2.184 | MBTPS2 | Eleanor Williams commented on gene: MBTPS2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed to keep this gene as amber at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.123 | MBTPS2 | Eleanor Williams commented on gene: MBTPS2: Copied from the Osteogenesis imperfecta panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.123 | MBTPS2 | Eleanor Williams Entity copied from Osteogenesis imperfecta v2.37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.123 | MBTPS2 |
Eleanor Williams gene: MBTPS2 was added gene: MBTPS2 was added to Skeletal dysplasia. Sources: Expert list,Expert Review Amber Q3_21_rating, Q3_21_expert_review tags were added to gene: MBTPS2. Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MBTPS2 were set to 27380894 Phenotypes for gene: MBTPS2 were set to Osteogenesis imperfecta, type XIX, OMIM:301014; osteogenesis imperfecta, type 19, MONDO:0049223 |
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