Aortopathy_Connective Tissue Disorders
Gene: ELN
>3 families with Cutis laxa or Supravalvar aortic stenosis.
PMID: 30071989
Assertion made by the Aortopathy working group. So far there is no evidence that patients with ELN mutations present with aortic dissection or progressive aortic enlargement. Functional evidence, however, supports a role for ELN in HTAAD. ELN mutations cause AD cutis laxa syndrome, a disease with low risk for thoracic aortic disease and primarily diagnosed based on non-vascular features
Sources: OtherCreated: 1 Jul 2020, 5:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cutis laxa 123700; Supravalvar aortic stenosis 185500
Publications
Gene: eln has been classified as Green List (High Evidence).
Gene: eln has been classified as Green List (High Evidence).
gene: ELN was added gene: ELN was added to Aortopathy_Connective Tissue Disorders. Sources: Other Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ELN were set to 27866049; 31560829; 19844261; 19844261 Phenotypes for gene: ELN were set to Cutis laxa 123700; Supravalvar aortic stenosis 185500 Review for gene: ELN was set to GREEN