CUL4B

cullin 4B
OMIM: 300304, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CUL4B in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354

Green CUL4B in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354

Green CUL4B in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354

    Green CUL4B in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CUL4B in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CUL4B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354

    Green CUL4B in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)

    Green CUL4B in Fetal anomalies


    Version 1.314

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354

    Green CUL4B in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354

    Green CUL4B in Prepair 500+


    Level 2: Screening
    Version 1.5

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)