PMEPA1

prostate transmembrane protein, androgen induced 1
OMIM: 606564, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green PMEPA1 in Thoracic aortic aneurysm or dissection (GMS)


Level 2: Cardiology
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Research
Phenotypes
  • thoracic aortic aneurysm, MONDO:0005396
  • tall stature
  • dolichocephaly
  • abnormal axial skeletal morphology
  • pes planus
  • Loeys-Dietz syndrome, MONDO:0018954
Tags
  • gene-checked