PTBP2

polypyrimidine tract binding protein 2
OMIM: 608449, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber PTBP2 in Mendeliome


Version 1.3741

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), PTBP2-related

Amber PTBP2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.486

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), PTBP2-related