MFAP5

microfibril associated protein 5
OMIM: 601103, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber MFAP5 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection

Red MFAP5 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 Not set
Sources
  • NHS GMS

Green MFAP5 in Thoracic aortic aneurysm and dissection


Version 1.18
Latest signed off version: v1.2 (19 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 9, 616166

Red MFAP5 in Thoracic aortic aneurysm or dissection

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • Other
Phenotypes
  • Aortic aneurysm, familial thoracic 9, 616166