PPP1R3F

protein phosphatase 1 regulatory subunit 3F
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PPP1R3F in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related

Green PPP1R3F in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related

    Green PPP1R3F in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related