MAGED1

MAGE family member D1
OMIM: 300224, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber MAGED1 in Mendeliome


Version 2.49

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, MAGED1-related

Amber MAGED1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.6

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, MAGED1-related

    Amber MAGED1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.8

    1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, MAGED1-related