Genomics England
GMS Panels
Panels
Genes and Entities

EFEMP2

EGF containing fibulin extracellular matrix protein 2
OMIM: 604633
PanelMode of inheritanceDetails
2 panels
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IB, OMIM:614437
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IB, 614437, aortic aneurysm