SPOP

speckle type BTB/POZ protein
OMIM: 602650, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SPOP in Familial prostate cancer


Version 1.4

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • prostate cancer
Green SPOP in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPOP-related Neurodevelopmental Disorder, gain of function
    • SPOP-related Neurodevelopmental Disorder, dominant negative
    Green SPOP 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Nabais Sa-de Vries syndrome, type 1, 618828
    • Nabais Sa-de Vries syndrome, type 2, 618829