PREP

prolyl endopeptidase
OMIM: 600400, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PREP in Mendeliome


Version 2.268

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), PREP-related

Amber PREP in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.22

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), PREP-related

    Amber PREP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.41

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), PREP-related