LEMD2

LEM domain containing 2
OMIM: 616312, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber LEMD2 in Arrhythmogenic Cardiomyopathy


Level 2: Cardiovascular disorders
Version 0.73

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587
    Tags
    • founder

    Amber LEMD2 in Cataract


    Level 2: Ophthalmological disorders
    Version 0.375

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cataract 46, juvenile-onset, OMIM# 212500
    Tags
    • founder

    Green LEMD2 in Mendeliome


    Version 1.3499

    4 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Marbach-Rustad progeroid syndrome, OMIM# 619322
    • arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587
    • Cataract 46, juvenile-onset, OMIM# 212500

    Green LEMD2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Marbach-Rustad progeroid syndrome MONDO:0859147