PPP1R3F

protein phosphatase 1 regulatory subunit 3F
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PPP1R3F in Mendeliome


Version 1.4216

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

Amber PPP1R3F in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.362

Component of the following Super Panels:

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

    Amber PPP1R3F in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

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