PSMC5

proteasome 26S subunit, ATPase 5
OMIM: 601681, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red PSMC5 in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 6.5
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
  • Yu-Kury neurodevelopmental syndrome, OMIM:621565
Green PSMC5 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PSMC5-related developmental disorder (monoallelic)
    • Yu-Kury neurodevelopmental syndrome, OMIM:621565
    Green PSMC5 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    • Yu-Kury neurodevelopmental syndrome, OMIM:621565