Genomics England
GMS Panels
Panels
Genes and Entities

ELN

elastin
OMIM: 130160
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ELN-RELATED CUTIS LAXA 314088, SUPRAVALVAR AORTIC STENOSIS 185500
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cutis laxa, autosomal dominant, OMIM:123700
Green
in Elastin-related phenotypes
R-numbers: R140
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ELN-RELATED CUTIS LAXA, SUPRAVALVAR AORTIC STENOSIS
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Supravalvar aortic stenosis, 185500, Cutis laxa, autosomal dominant, 123700