ELN

Chr 7

elastin

ENSG00000049540UniProt: P15502

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)

Primary Disease Associations & Inheritance

UniProtCutis laxa, autosomal dominant, 1
UniProtSupravalvular aortic stenosis
575
ClinVar variants
141
Pathogenic / LP
0.00
pLI score
12
Active trials
Clinical Summary— ELN
🧬
Gene-Disease Validity (ClinGen)
cutis laxa, autosomal dominant 1 · ADDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
141 Pathogenic / Likely Pathogenic· 184 VUS of 575 total submissions
💊
Clinical Trials
12 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.87LOEUF
pLI 0.000
Z-score 2.26
OE 0.64 (0.47–0.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.05Z-score
OE missense 0.99 (0.92–1.08)
427 obs / 429.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.64 (0.47–0.87)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.99 (0.92–1.08)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.09
0≤1.21.6
LoF obs/exp: 29 / 45.4Missense obs/exp: 427 / 429.8Syn Z: -0.95

ClinVar Variant Classifications

575 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic106
Likely Pathogenic35
VUS184
Likely Benign160
Benign42
Conflicting48
106
Pathogenic
35
Likely Pathogenic
184
VUS
160
Likely Benign
42
Benign
48
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
46
2
58
0
106
Likely Pathogenic
27
1
7
0
35
VUS
6
123
49
6
184
Likely Benign
0
15
73
72
160
Benign
0
2
36
4
42
Conflicting
—48
Total7914322382575

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ELN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

ELN-related cutis laxa

definitive
ADLoss Of FunctionAbsent Gene Product
Dev. DisordersSkin
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

📖
GeneReview available — ELN
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
2021 Update on MRD in acute myeloid leukemia: a consensus document from the European LeukemiaNet MRD Working Party.
Heuser M et al.·Blood
2021
Williams syndrome.
Kozel BA et al.·Nat Rev Dis Primers
2021Review
Diagnosis, prognostic factors, and assessment of ALL in adults: 2024 ELN recommendations from a European expert panel.
Gökbuget N et al.·Blood
2024Guideline
Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.
Stockklausner C et al.·Ann Hematol
2021Review
Criteria for Diagnosis and Molecular Monitoring of NPM1-Mutated AML.
Falini B et al.·Blood Cancer Discov
2024Review
Appropriate management of polycythaemia vera with cytoreductive drug therapy: European LeukemiaNet 2021 recommendations.
Marchetti M et al.·Lancet Haematol
2022Review
Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet.
Barbui T et al.·Leukemia
2018Review
Intermediate-Dose Cytarabine as Postinduction AML Therapy.
Hunault M et al.·NEJM Evid
2025
Guidelines for the treatment of chronic myeloid leukemia from the NCCN and ELN: differences and similarities.
Narlı Özdemir Z et al.·Int J Hematol
2023Review
Management of ALL in adults: 2024 ELN recommendations from a European expert panel.
Gökbuget N et al.·Blood
2024Guideline
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Prader-Willi SyndromePWS-like SyndromeSilver Russel Syndrome

GROWing Up With Rare GENEtic Syndromes

RECRUITING
NCT04463316dr. Laura C. G. de Graaff-HerderStarted 2018-10-01
Retrospective file studies
Acute Myeloid Leukemia

Comparing Cytarabine + Daunorubicin Therapy Versus Cytarabine + Daunorubicin + Venetoclax Versus Venetoclax + Azacitidine in Younger Patients With Intermediate Risk AML (A MyeloMATCH Treatment Trial)

RECRUITING
NCT05554393Phase PHASE2National Cancer Institute (NCI)Started 2024-09-13
AzacitidineBiospecimen CollectionBone Marrow Aspiration
Myelodysplastic SyndromesAcute Myeloid LeukemiaChronic Myelomonocytic Leukemia

Combining Active and Passive DNA Hypomethylation

RECRUITING
NCT03999723Phase PHASE2Kirsten GrønbækStarted 2019-09-11
Vitamin CPlacebo
Chronic Myeloid Leukemia in Chronic Phase

Real-world Study of Scemblix in the Treatment of Chronic Myeloid Leukemia in China

NOT YET RECRUITING
NCT07375355Novartis PharmaceuticalsStarted 2026-02-27
Acute Myeloid LeukemiaAML, AdultAML With Gene Mutations

Revumenib in Combination With 7+3 + Midostaurin in AML

RECRUITING
NCT06313437Phase PHASE1Richard Stone, MDStarted 2024-12-06
RevumenibMidostaurinCytarabine
Acute Myeloid Leukemia

Chimeric Antigen Receptor T Cell Redirected to Target CD4 Positive Relapsed Refractory Acute Myeloid Leukemia (AML ) as a Bridge to Allogeneic Stem Cell Transplant

RECRUITING
NCT06197672Phase PHASE1Huda SalmanStarted 2024-03-19
CD4CAR
Acute Myeloid LeukemiaRecurrent Acute Myeloid LeukemiaRefractory Acute Myeloid Leukemia

Entrectinib in Combination With ASTX727 for the Treatment of Relapsed/Refractory TP53 Mutated Acute Myeloid Leukemia

ACTIVE NOT RECRUITING
NCT05396859Phase PHASE1OHSU Knight Cancer InstituteStarted 2022-10-28
Decitabine and CedazuridineEntrectinibLaboratory Biomarker Analysis
AML, Adult

OBServatory of Compassionate Use of IVOsidenib in France for Patients With Acute Myeloid Leukemia

RECRUITING
NCT06377579French Innovative Leukemia OrganisationStarted 2024-07-31
Chronic Myeloid Leukemia, Chronic PhaseAdult CMLLeukemia, Myeloid

Asciminib as Initial Therapy for Patients With Chronic Myeloid Leukemia in Chronic Phase

RECRUITING
NCT05143840Phase PHASE2Augusta UniversityStarted 2022-04-22
Single Agent AsciminibLow TKIElective Free Treatment
Philadelphia Chromosome-Positive Chronic Myeloid Leukemia

A Study to Investigate Tolerability and Efficacy of Asciminib (Oral) Versus Nilotinib (Oral) in Adult Participants (≥18 Years of Age) With Newly Diagnosed Philadelphia Chromosome Positive Chronic Myelogenous Leukemia in Chronic Phase (Ph+ CML-CP)

ACTIVE NOT RECRUITING
NCT05456191Phase PHASE3Novartis PharmaceuticalsStarted 2022-11-21
AsciminibNilotinib
MucopolysaccharidosesCarotid DiseaseCardiac Disease

Cardiovascular Structure and Function in the Mucopolysaccharidoses

ACTIVE NOT RECRUITING
NCT05063435Children's Hospital of Orange CountyStarted 2021-10-13
Carotid ultrasonographyEchocardiography, transthoracicVenipuncture
Acute Myeloid Leukemia

Sulfasalazine in AML Treated by Intensive Chemotherapy: Elderly Patients-first Line Treatment

RECRUITING
NCT05580861Phase PHASE1, PHASE2Assistance Publique - Hôpitaux de ParisStarted 2023-05-17
Sulfasalazine

External Resources

Links to major genomics databases and tools