ELN

PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ELN-RELATED CUTIS LAXA 314088, SUPRAVALVAR AORTIC STENOSIS 185500
R-numbers: R101
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cutis laxa, AD, 123700
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ELN-RELATED CUTIS LAXA, SUPRAVALVAR AORTIC STENOSIS
R-numbers: R125
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Supravalvar aortic stenosis, 185500, Cutis laxa, autosomal dominant, 123700