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| Craniosynostosis v0.57 | SHOC2 | Tiong Tan Marked gene: SHOC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.57 | SHOC2 | Tiong Tan Gene: shoc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.57 | SHOC2 | Tiong Tan Classified gene: SHOC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.57 | SHOC2 | Tiong Tan Gene: shoc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v0.56 | SHOC2 |
Tiong Tan gene: SHOC2 was added gene: SHOC2 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHOC2 were set to 28650561; 25123707 Phenotypes for gene: SHOC2 were set to Noonan syndrome with loose anagen hair Penetrance for gene: SHOC2 were set to Complete Mode of pathogenicity for gene: SHOC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: SHOC2 was set to AMBER Added comment: Two unrelated individuals with SHOC2-related Noonan syndrome and craniosynostosis; other Noonan syndrome genotypes have higher incidence of craniosynostosis. Sources: Literature |
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