ELN |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ELN (HGNC:3327) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- elastin
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- WBS, WS, SVAS
- %HI
- 8.62(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.7(Read more about gnomAD LOEUF score)
- Cytoband
- 7q11.23
- Genomic Coordinates
-
GRCh37/hg19: chr7:73442503-73484237 NCBI Ensembl UCSC GRCh38/hg38: chr7:74028173-74069907 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000501.4 ENST00000252034.12 (Read more about MANE Select)
- Function
- Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity). {ECO:0000250|UniProtKB:P54320}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-7735
ClinGen Curation ID:
CCID:007066
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
07/10/2012
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- supravalvular aortic stenosis Monarch
HI Evidence Comments:
Heterozygous deletion and certain sequence-level mutations of ELN cause supravalvular aortic stenosis (SVAS) by a pathogenic mechanism of haploinsufficiency. See MIM ID#185500 and MIM#130160 for summary of literature specific to haploinsufficiency of ELN and SVAS.
Haploinsufficiency for ELN also contributes to the vascular and connective tissue abnormalities observed in the 7q11.23 contiguous gene deletion disorder, Williams-Beuren syndrome (WBS)(MIM #194050).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
ELN is duplicated in the chromosome 7q11.23 microduplication syndrome (MIM #609757), however it is not known whether increased gene dosage contributes to any of the associated phenotypes; focal ELN duplication has not been reported.
Intragenic duplication and certain sequence-level mutations of ELN can cause autosomal dominant cutis laxa (MIM #123700 and MIM#130160) by a dominant-negative mechanism of pathogenesis.
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)