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Hearing loss

Gene: EDN3

Green List (high evidence)

EDN3 (endothelin 3)
EnsemblGeneIds (GRCh38): ENSG00000124205
EnsemblGeneIds (GRCh37): ENSG00000124205
OMIM: 131242, Gene2Phenotype
EDN3 is in 5 panels

5 reviews

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 11 Oct 2018, 1:44 p.m.
Comment on mode of inheritance: Confirmed on OMIM.
Created: 17 Feb 2016, 2:29 p.m.

Jun Shen (Harvard Medical School)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#209880:Central hypoventilation syndrome, congenital[Diminished pupillary light responses; Alveolar hypoventilationShallow breathing (decreased tidal volume)Normal respiratory ratePeriods of apneaAbnormal respiration due to defect in autonomic functionDecreased sensitivity to hypercapnia and hypoxemia; Poor feedingConstipationHirschsprung disease (16%); Increased sweating; Dysfunction of the autonomic nervous system; Poor temperature regulationDecreased basal body temperature; Tumors of the sympathetic nervous system (5 to 10%)NeuroblastomaGanglioneuromaGanglioneuroblastoma; Chronic hypoxemiaChronic hypercapnia]; #613265:Waardenburg syndrome, type 4B[Deafness, sensorineural; Hypopigmented iridesBright blue irides; Hirschsprung diseaseDecreased myenteric and submucosal ganglia in the bowel; Hypopigmented skin patches; White forelockWhite eyelashesWhite eyebrowsPremature graying]; #613712:{Hirschsprung disease, susceptibility to, 4}

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from expert reviewer and OMIM
Created: 31 Jan 2016, 7:43 p.m.
Comment on mode of inheritance: Some evidence from OMIM of biallelic as well?
Created: 31 Jan 2016, 7:42 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Good evidence for causing Waardenburg syndrome (rare cause) and the diagnosis could be missed so put on green list
Created: 19 Oct 2015, 5:50 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Waardenburg syndrome, type 4B, 613265
  • Central hypoventilation syndrome, congenital, 209880
  • {Hirschsprung disease, susceptibility to}, 613712
OMIM
131242
Clinvar variants
Variants in EDN3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for EDN3 were set to Waardenburg syndrome, type 4B, 613265; Central hypoventilation syndrome, congenital, 209880; {Hirschsprung disease, susceptibility to}, 613712;

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for EDN3 were set to PMID: 10231870; 10438732; 10884419; 11303518; 18401410; 1889823; 19764030; 20009762; 2018043; 20583152; 22997338; 2509452; 2649896; 8000144; 8001160; 8630502; 8630503; 8696331; 9359047

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for EDN3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

31 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2016, Gel status: 2

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

31 Jan 2016, Gel status: 2

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for EDN3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

EDN3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

EDN3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EDN3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert