Monogenic hearing loss
Gene: EDN3Comment on mode of inheritance: MOI changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" as patients with biallelic variants have a more severe phenotype. This MOI change does not affect tiering.Created: 3 Nov 2021, 3:53 p.m. | Last Modified: 3 Nov 2021, 3:53 p.m.
Panel Version: 2.208
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
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
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 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.
Good evidence for causing Waardenburg syndrome (rare cause) and the diagnosis could be missed so put on green listCreated: 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
Mode of inheritance for gene: EDN3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for EDN3 were set to Waardenburg syndrome, type 4B, 613265; Central hypoventilation syndrome, congenital, 209880; {Hirschsprung disease, susceptibility to}, 613712;
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
Mode of inheritance for EDN3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for EDN3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
EDN3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
EDN3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
EDN3 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert