PPP1R2

protein phosphatase 1 regulatory inhibitor subunit 2
OMIM: 601792, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PPP1R2 in Mendeliome


Version 1.3050

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Neurodevelopmental disorder, PPP1R2-related

Red PPP1R2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.288

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, PPP1R2-related