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  3. PSMC5
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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: PSMC5

Red List (low evidence)
PSMC5 (proteasome 26S subunit, ATPase 5)
EnsemblGeneIds (GRCh38): ENSG00000087191
EnsemblGeneIds (GRCh37): ENSG00000087191
OMIM: 601681, Gene2Phenotype
PSMC5 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

An individual was described with metopic synostosis and a de novo variant in PSMC5 (p.Arg317Trp) (PMID:28808027).
Sources: Literature
Created: 23 Jul 2023, 5:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 5:31 p.m.

Panel version: 4.151

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
OMIM
601681
Clinvar variants
Variants in PSMC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

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