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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.164 | SPRY4 |
Achchuthan Shanmugasundram gene: SPRY4 was added gene: SPRY4 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: SPRY4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPRY4 were set to 28808027; 36980886 Phenotypes for gene: SPRY4 were set to craniosynostosis, MONDO:0015469 Review for gene: SPRY4 was set to RED Added comment: An individual was described with a heterozygous de novo variant in SPRY4 (p.Glu160Ter) (PMID:28808027). This gene has a low pLI (0) suggesting tolerance to loss-of-function. Sources: Literature |
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