CUL3

cullin 3
OMIM: 603136, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CUL3 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with or without autism or seizures 619239

Red CUL3 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without autism or seizures, MIM#619239, Pseudohypoaldosteronism, type IIE, MIM#614496

Green CUL3 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without autism or seizures (MIM#619239)

Green CUL3 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudohypoaldosteronism, type IIE 614496
  • Neurodevelopmental disorder with or without autism or seizures, MIM# 619239

Green CUL3 in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type IIE, MIM# 614496

Amber CUL3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without autism or seizures, MIM# 619239
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Abnormality of cardiovascular system morphology
    • Abnormality of the palate

    Green CUL3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without autism or seizures, MIM# 619239
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Abnormality of cardiovascular system morphology
    • Abnormality of the palate

    Green CUL3 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with or without autism or seizures (MIM#619239)
    • Pseudohypoaldosteronism, type IIE (MIM#614496)

    Green CUL3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pseudohypoaldosteronism, type IIE 614496
    Tags
    • treatable
    • endocrine

    Green CUL3 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.14

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    Phenotypes
    • Pseudohypoaldosteronism, type IIE, MIM# 614496