| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v0.153 | TMEM53 | Zornitza Stark Marked gene: TMEM53 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.153 | TMEM53 | Zornitza Stark Gene: tmem53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.153 | TMEM53 | Zornitza Stark Classified gene: TMEM53 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.153 | TMEM53 | Zornitza Stark Gene: tmem53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.152 | TMEM53 |
Lucy Spencer gene: TMEM53 was added gene: TMEM53 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM53 were set to PMID: 33824347 Phenotypes for gene: TMEM53 were set to Primary Bone Dysplasia MONDO: 0018230 Review for gene: TMEM53 was set to GREEN Added comment: PMID: 33824347- 4 families with sclerosing bone disorder. Sources: Literature |
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