EFEMP1

EGF containing fibulin extracellular matrix protein 1
OMIM: 601548, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red EFEMP1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

No list EFEMP1 in Ehlers Danlos syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 2.65
Latest signed off version: v2.3 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Connective tissue disorder

Green EFEMP1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.285
Latest signed off version: v2.195 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Macular Dystrophy/Degeneration/Stargardt Disease
  • Inherited macular dystrophy (Doyne/dominant drusen)

Red EFEMP1 in Structural eye disease


Version 1.132
Latest signed off version: v1.3 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Doyne honeycomb degeneration of retina, 126600
  • Eye Disorders