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  3. EDN1
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Mandibulofacial Acrofacial dysostosis

Gene: EDN1

Amber List (moderate evidence)
EDN1 (endothelin 1)
EnsemblGeneIds (GRCh38): ENSG00000078401
EnsemblGeneIds (GRCh37): ENSG00000078401
OMIM: 131240, Gene2Phenotype
EDN1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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.

Two unrelated families reported.
Created: 7 Apr 2021, 10:45 a.m. | Last Modified: 7 Apr 2021, 10:45 a.m.
Panel Version: 0.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Auriculocondylar syndrome 3, MIM# 615706

Publications

Created: 7 Apr 2021, 10:45 a.m.
Last Modified: 7 Apr 2021, 10:45 a.m.
Panel version: 0.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Auriculocondylar syndrome 3, MIM# 615706
OMIM
131240
Clinvar variants
Variants in EDN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: edn1 has been classified as Amber List (Moderate Evidence).

7 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EDN1 were changed from to Auriculocondylar syndrome 3, MIM# 615706

7 Apr 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EDN1 were set to 23315542; 23913798; 24268655

7 Apr 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EDN1 were set to

7 Apr 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EDN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: edn1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EDN1 was added gene: EDN1 was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EDN1 was set to Unknown