Monogenic hearing loss

Gene: EDN3

Comment 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

Green List (high evidence)

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

• PMID:10231870

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.

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