Genomics England
GMS Panels
Panels
Genes and Entities

EFEMP2

EGF containing fibulin extracellular matrix protein 2
OMIM: 604633
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OMIM:614437
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