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Fetal anomalies

Gene: EDN1

Amber List (moderate evidence)
EDN1 (endothelin 1)
EnsemblGeneIds (GRCh38): ENSG00000078401
EnsemblGeneIds (GRCh37): ENSG00000078401
OMIM: 131240, Gene2Phenotype
EDN1 is in 3 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

I don't know

Amber on UK fetal anomalies panel, green on DDG2P and red on clefting. Amber on Aus fetal anomalies panel. Auriculocondylar syndrome (ARCND) is a rare craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia, prominent cheeks, and question mark ears (QMEs). Mono-allelic variants in this gene are associated with isolated QMEs. PMID 24268655 - one sib with bifid uvula, laryngeal cleft, short velum, retrognathia, a typical QME on the right, a severely dysmorphic left ear, and an aneurysm of the vein of Galen. Other sib displayed a left QME, over-folded helix on the right, glossoptosis, and mandibular hypoplasia requiring distraction. PMID 12244558 - case report, patient had characteristic ears, unique bilateral appendages emerging from the anterior tonsillar pillars almost into the tip of the normal uvula, and a hypoplastic mandibular condyle on x-ray films. PMID 35170830 - patient who had right QME with postauricular tag, microstomia, submucous cleft palate, and mild microretrognathia. Prenatal ultrasound showed unilateral hydronephrosis, and postnatal imaging showed a scarred and small left kidney.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Auriculocondylar syndrome 3, OMIM:615706

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for AURICULOCONDYLAR SYNDROME
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as LOF for monoallelic AURICULOCONDYLAR SYNDROME, and listed as All missense/in frame for biallelic AURICULOCONDYLAR SYNDROME.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AURICULOCONDYLAR SYNDROME
  • Auriculocondylar syndrome 3, OMIM:615706
OMIM
131240
Clinvar variants
Variants in EDN1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Auriculocondylar syndrome 3, OMIM:615706 for gene: EDN1

9 Mar 2026, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene EDN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes AURICULOCONDYLAR SYNDROME for gene: EDN1

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: EDN1 was added gene: EDN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EDN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EDN1 were set to AURICULOCONDYLAR SYNDROME