SPOP:Ensemblv90

speckle type BTB/POZ protein
OMIM: 602650, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SPOP in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nabais Sa-de Vries syndrome, type 1 MIM#618828
  • Nabais Sa-de Vries syndrome, type 2, MIM#618829

Green SPOP in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nabais Sa-de Vries syndrome, type 1 MIM#618828
  • Nabais Sa-de Vries syndrome, type 2, MIM#618829

Red SPOP in CGC_86


Version 0.3

0 reviews Other
Sources
  • CGC_86
Phenotypes
  • NA

Green SPOP in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Nabais Sa-de Vries syndrome, type 1 MIM#618828
  • Nabais Sa-de Vries syndrome, type 2, MIM#618829