EFEMP2

EGF containing fibulin extracellular matrix protein 2
OMIM: 604633, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber EFEMP2 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Red EFEMP2 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.29

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease

Red EFEMP2 in Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 2.37
Latest signed off version: v2.17 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Cutis laxa

Amber EFEMP2 in Rare genetic inflammatory skin disorders


Version 1.54
Latest signed off version: v1.6 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber

Green EFEMP2 in Thoracic aortic aneurysm and dissection


Version 1.23
Latest signed off version: v1.2 (19 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • Cutis laxa, autosomal recessive, type IB, 614437
  • aortic aneurysm

Green EFEMP2 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.123

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • London South GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Cutis laxa, autosomal recessive, type IB, 614437
  • aortic aneurysm

Green EFEMP2 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
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal recessive, type IB, OMIM:614437