Genomics England
GMS Panels
Panels
Genes and Entities

PMEPA1

prostate transmembrane protein, androgen induced 1
OMIM: 606564
PanelMode of inheritanceDetails
1 panel
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 3.19
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
thoracic aortic aneurysm, MONDO:0005396, tall stature, dolichocephaly, abnormal axial skeletal morphology, pes planus, Loeys-Dietz syndrome, MONDO:0018954