EMILIN1

elastin microfibril interfacer 1
OMIM: 130660, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green EMILIN1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuronopathy, distal hereditary motor, type X, MIM# 620080 Aortic aneurysm, MONDO:0005160, EMILIN2-related

Green EMILIN1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuronopathy, distal hereditary motor, type X, MIM# 620080
  • Aortic aneurysm, MONDO:0005160, EMILIN2-related

Amber EMILIN1 in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.14

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neuronopathy, distal hereditary motor, type X, MIM# 620080
    • Peripheral neuropathy
    • aortic aneurysm