PPP1R21

protein phosphatase 1 regulatory subunit 21
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PPP1R21 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383
  • Hypotonia
  • intellectual disability
  • white matter abnormalities

Green PPP1R21 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypotonia
  • intellectual disability
  • white matter abnormalities

Green PPP1R21 in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.308

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383
    • Hypotonia
    • intellectual disability
    • white matter abnormalities