SPOP

speckle type BTB/POZ protein
OMIM: 602650, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SPOP in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • dysmorphism
  • microcephaly
  • macrocephaly

Green SPOP in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • dysmorphism
  • microcephaly
  • macrocephaly

Red SPOP in CGC_86


Version 0.2

review Other
Sources
  • CGC_86
Phenotypes
  • NA