EMC10

ER membrane protein complex subunit 10
OMIM: 614545, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EMC10 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264
Tags
  • founder

Green EMC10 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264
    Tags
    • founder

    Green EMC10 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
    • Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264
    Tags
    • founder