PCBP1

poly(rC) binding protein 1
OMIM: 601209, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green PCBP1 in Mendeliome


Version 1.4181

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, PCBP1-related

Green PCBP1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.628

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, PCBP1-related