CUL3

cullin 3
OMIM: 603136, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CUL3 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Literature
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Pseudohypoaldosteronism, type IIE, 614496

    Green CUL3 in Autism


    Version 0.22

    review Not set
    Sources
    • Expert Review Green
    • SFARI

    Amber CUL3 in DDG2P


    Version 2.44
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert Review Amber
    • DD-Gene2Phenotype
    Phenotypes
    • CUL3-related developmental disorder (monoallelic)

    Green CUL3 in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.27
    Latest signed off version: v2.23 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Pseudohypoaldosteronism, type IIE, 214496

    Amber CUL3 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.422
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Abnormality of cardiovascular system morphology
    • Abnormality of the palate
    • Pseudohypoaldosteronism, type IIE - MIM #614496

    Amber CUL3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1282
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Autism Spectrum Disorder
    • Seizures
    • Abnormality of cardiovascular system morphology
    • Abnormality of the palate
    • Pseudohypoaldosteronism, type IIE, 614496