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| Fetal anomalies v0.351 | SIK3 | Rebecca Foulger Phenotypes for gene: SIK3 were changed from ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 to Spondyloepimetaphyseal dysplasia, Krakow type, 618162 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.350 | SIK3 | Rebecca Foulger Classified gene: SIK3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.350 | SIK3 | Rebecca Foulger Added comment: Comment on list classification: Added SIK3 to panel as a Green gene following communication with Rhiannon Mellis. A mouse model (PMID:22318228) provides additional support: mice show skeletal anomalies (plus dwarfism postnatally). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.350 | SIK3 | Rebecca Foulger Gene: sik3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.349 | SIK3 |
Rebecca Foulger gene: SIK3 was added gene: SIK3 was added to Fetal anomalies. Sources: Other Mode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIK3 were set to 30232230; 22318228 Phenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 Added comment: Added to panel as suggested by Rhinannon Mellis. One pair of siblings with spondyloepimetaphyseal dysplasia reported in PMID:30232230 (Csukasi et al., 2018) plus one clinical case of suspected skeletal dysplasia prenatally. Sources: Other |
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