1. Panels
  2. Pulmonary Fibrosis_Interstitial Lung Disease
  3. ELN
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Pulmonary Fibrosis_Interstitial Lung Disease

Gene: ELN

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Literature
Created: 26 Jul 2024, 8:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cutis laxa, autosomal dominant, MIM# 123700

Created: 26 Jul 2024, 8:31 a.m.

Panel version: 0.66

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal dominant, MIM# 123700
OMIM
130160
Clinvar variants
Variants in ELN
Penetrance
None
Panels with this gene

History Filter Activity

26 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eln has been classified as Green List (High Evidence).

26 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eln has been classified as Green List (High Evidence).

26 Jul 2024, Gel status: 1

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 Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELN were set to Cutis laxa, autosomal dominant, MIM# 123700 Review for gene: ELN was set to GREEN