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DDG2P

Gene: ELN

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders).
Created: 19 Nov 2018, 11:29 a.m.

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes SUPRAVALVAR AORTIC STENOSIS 185500 for gene: ELN Publications for gene ELN were changed from to 11735026; 10190538; 11175284; 19844261; 10190324; 9215670; 8541862; 8132745; 9215671

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ELN was added gene: ELN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELN were set to ELN-RELATED CUTIS LAXA 314088