TNPO2

transportin 2
OMIM: 603002, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TNPO2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Literature
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556

Green TNPO2 in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556