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Additional findings_Paediatric

Gene: ELN

Green List (high evidence)

ELN (elastin)
EnsemblGeneIds (GRCh38): ENSG00000049540
EnsemblGeneIds (GRCh37): ENSG00000049540
OMIM: 130160, Gene2Phenotype
ELN is in 10 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Supravalvar aortic stenosis
OMIM
130160
Clinvar variants
Variants in ELN
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Supravalvar aortic stenosis for gene: ELN

27 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ELN was added gene: ELN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELN were set to Supravalvar aortic stenosis