Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: PSMC5EnsemblGeneIds (GRCh38): ENSG00000087191
EnsemblGeneIds (GRCh37): ENSG00000087191
OMIM: 601681, Gene2Phenotype
PSMC5 is in 3 panels
2 reviews
Ida Ertmanska (Genomics England Curator)
Comment on phenotypes: OMIM phenotype added 1st May 2026.Created: 1 May 2026, 2:23 p.m. | Last Modified: 1 May 2026, 2:23 p.m.
Panel Version: 6.5
Achchuthan Shanmugasundram (Genomics England Curator)
An individual was described with metopic synostosis and a de novo variant in PSMC5 (p.Arg317Trp) (PMID:28808027).
Sources: LiteratureCreated: 23 Jul 2023, 5:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
craniosynostosis, MONDO:0015469
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Literature
- Phenotypes
-
- craniosynostosis, MONDO:0015469
- Yu-Kury neurodevelopmental syndrome, OMIM:621565
- OMIM
- 601681
- Clinvar variants
- Variants in PSMC5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: PSMC5 were changed from craniosynostosis, MONDO:0015469 to craniosynostosis, MONDO:0015469; Yu-Kury neurodevelopmental syndrome, OMIM:621565
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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