FBLN2:Ensemblv90

fibulin 2
OMIM: 135821, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red FBLN2 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, FBLN2-related

Red FBLN2 in Pulmonary Arterial Hypertension


Level 2: Cardiovascular disorders
Version 1.50

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, FBLN2-related

Red FBLN2 in Pulmonary Arterial Hypertension


Level 2: Cardiovascular disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, FBLN2-related