Gene Symbol:
ELN
HGNC:3327
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
7q11.23
Filters:

Definitive classifications

supravalvular aortic stenosis
Submitted as: OMIM:185500
AD
07/22/2015
Evaluated
11/25/2020
Submitted
supravalvular aortic stenosis
Submitted as: OMIM:185500
AD
08/31/2018
Evaluated
03/02/2021
Submitted
cutis laxa, autosomal dominant 1
Submitted as: OMIM:123700
AD
07/22/2015
Evaluated
07/01/2021
Submitted

Strong classifications

cutis laxa, autosomal dominant 1
Submitted as: OMIM:123700
AD
10/08/2020
Evaluated
11/09/2020
Submitted
cutis laxa, autosomal dominant 1
Submitted as: OMIM:123700
AD
03/04/2020
Evaluated
03/31/2021
Submitted
cutis laxa, autosomal dominant 1
Submitted as: OMIM:123700
AD
08/31/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

supravalvular aortic stenosis
Submitted as: Orphanet:3193
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant cutis laxa
Submitted as: Orphanet:90348
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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