SPOP

speckle type BTB/POZ protein
OMIM: 602650, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green SPOP in Mendeliome


Version 1.2374

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 1.83

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