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  2. Clefting disorders
  3. EDN1
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Clefting disorders

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

Two families reported, bifid uvula and submucous cleft.
Created: 6 Feb 2021, 10:33 a.m. | Last Modified: 6 Feb 2021, 10:33 a.m.
Panel Version: 0.69

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Auriculocondylar syndrome 3, MIM# 615706

Publications

Created: 6 Feb 2021, 10:33 a.m.
Last Modified: 6 Feb 2021, 10:33 a.m.
Panel version: 0.69

Details

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

History Filter Activity

6 Feb 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).

6 Feb 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Feb 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EDN1 were set to

6 Feb 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

6 Feb 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).

16 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EDN1 was added gene: EDN1 was added to Clefting_GEL. Sources: Expert list,Expert Review Red Mode of inheritance for gene: EDN1 was set to Unknown Phenotypes for gene: EDN1 were set to Cleft palate