OTUD5

OTU deubiquitinase 5
OMIM: 300713, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green OTUD5 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056
Green OTUD5 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OTUD5-associated neurodevelopmental disorder
    Green OTUD5 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056
    Green OTUD5 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056