LEMD2

LEM domain nuclear envelope protein 2
OMIM: 616312, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber LEMD2 in Arrhythmogenic Cardiomyopathy


Level 2: Cardiovascular disorders
Version 1.0

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 1.0

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 2.0

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 1.0

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