LEMD2

LEM domain containing 2
OMIM: 616312, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber LEMD2 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cataract 46, juvenile-onset, OMIM:212500
Tags
  • founder-effect
Green LEMD2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Nuclear Envelopathy with Early Progeroid Appearance