1. Genes and Genomic Entities
  2. OTUD6B

OTUD6B

OTU domain containing 6B
OMIM: 612021, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green OTUD6B in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.157
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM:617452
Green OTUD6B in DDG2P


Version 6.426
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
    Green OTUD6B in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 617452
    Green OTUD6B in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452