1. Genes and Genomic Entities
  2. SPOP

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 1.3

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


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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