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| Fetal anomalies v0.3610 | RSPRY1 | Zornitza Stark Marked gene: RSPRY1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3610 | RSPRY1 | Zornitza Stark Gene: rspry1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3610 | RSPRY1 | Zornitza Stark Phenotypes for gene: RSPRY1 were changed from PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3609 | RSPRY1 | Zornitza Stark Publications for gene: RSPRY1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3608 | RSPRY1 |
Zornitza Stark changed review comment from: Two unrelated individuals reported, some functional evidence. Dev delay/autism part of the phenotype. Sources: Expert list; to: Two unrelated individuals reported, some functional evidence. Multiple skeletal anomalies. Sources: Expert list |
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| Fetal anomalies v0.0 | RSPRY1 |
Zornitza Stark gene: RSPRY1 was added gene: RSPRY1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPRY1 were set to PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA |
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