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| Pierre Robin Sequence v0.8 | BMPR1B | Zornitza Stark Classified gene: BMPR1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.8 | BMPR1B | Zornitza Stark Gene: bmpr1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.7 | BMPR1B | Tiong Tan Marked gene: BMPR1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.7 | BMPR1B | Tiong Tan Gene: bmpr1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pierre Robin Sequence v0.7 | BMPR1B |
Tiong Tan gene: BMPR1B was added gene: BMPR1B was added to Pierre Robin Sequence. Sources: Literature Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMPR1B were set to 28418932 Phenotypes for gene: BMPR1B were set to PRS; pectus excavatum; radioulnar synostosis Penetrance for gene: BMPR1B were set to unknown Review for gene: BMPR1B was set to AMBER Added comment: Two unrelated families reported with lesions predicted to affect BMPR1B: translocation with deletion of two genes one of which was BMPR1B and a canonical splice site variant. Both genomic lesions segregated with the PRS phenotype in both families. Sources: Literature |
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