PMEPA1

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

1 panel

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


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Research
Phenotypes
  • thoracic aortic aneurysm, MONDO:0005396
  • tall stature
  • dolichocephaly
  • abnormal axial skeletal morphology
  • pes planus
  • Loeys-Dietz syndrome, MONDO:0018954
Tags
  • Q4_23_promote_green
  • Q4_23_NHS_review