Activity
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v6.5 | PSMC5 | Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype added 1st May 2026. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v6.5 | PSMC5 | Ida Ertmanska Phenotypes for gene: PSMC5 were changed from craniosynostosis, MONDO:0015469 to craniosynostosis, MONDO:0015469; Yu-Kury neurodevelopmental syndrome, OMIM:621565 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.151 | PSMC5 |
Achchuthan Shanmugasundram gene: PSMC5 was added gene: PSMC5 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: PSMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSMC5 were set to 28808027; 36980886 Phenotypes for gene: PSMC5 were set to craniosynostosis, MONDO:0015469 Review for gene: PSMC5 was set to RED Added comment: An individual was described with metopic synostosis and a de novo variant in PSMC5 (p.Arg317Trp) (PMID:28808027). Sources: Literature |
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