1. Genes and Genomic Entities
  2. SPOP

SPOP

speckle type BTB/POZ protein
OMIM: 602650, Gene2Phenotype

4 panels

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


Version 1.4

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • prostate cancer
Amber SPOP in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Nabais Sa-de Vries syndrome, type 1, OMIM:618828
  • Nabais Sa-de Vries syndrome, type 2, OMIM:618829
Green SPOP in DDG2P


Version 6.447
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 9.345
    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