Familial non syndromic congenital heart disease

Gene: ELN

Green List (high evidence)

ELN (elastin)
EnsemblGeneIds (GRCh38): ENSG00000049540
EnsemblGeneIds (GRCh37): ENSG00000049540
OMIM: 130160, Gene2Phenotype
ELN is in 13 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P
Created: 28 Nov 2016, 3:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Supravalvar aortic stenosis, 185500

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Supravalvar aortic stenosis, 185500
OMIM
130160
Clinvar variants
Variants in ELN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

28 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

28 Nov 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

ELN was added to Familial non syndromic congenital heart diseasepanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

28 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

ELN was created by agardham