Monogenic hearing loss

Gene: EDNRB

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, 4:27 p.m. | Last Modified: 3 Nov 2021, 4:27 p.m.

Panel Version: 2.209

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, 1:45 p.m.

Comment on mode of inheritance: Confirmed in OMIM.

Created: 17 Feb 2016, 2:34 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#277580:Waardenburg syndrome, type 4A[Deafness, sensorineural; Heterochromia iridisBicolored iridesBright blue irides; Hirschsprung diseaseDecreased myenteric and submucosal ganglia in the bowel; Hypopigmented skin patches; White forelockWhite eyelashesWhite eyebrowsPremature graying]; #600155:{Hirschsprung disease, susceptibility to, 2}[Hirschsprung disease; Aganglionic megacolon; Absent enteric ganglia along a variable length of intestine]; #600501:ABCD syndrome[Macrosomia; Albinism; Black lock at temporal occipital region; Retinal depigmentation; Bilateral deafness; Defective intestinal innervation; Neonatal fatal intestinal dysfunction; Aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine; Abnormal brainstem auditory-evoked potentials]

Publications

• PMID:10090908
• 10528251
• 10591209
• 10749572
• 10770212
• 11274080
• 11309363
• 11773966
• 11891690
• 12355085
• 12847519
• 12919946
• 12920301
• 14718401
• 15170213
• 15294878
• 1648908
• 16682595
• 1710450
• 18157142
• 1848367
• 20009762
• 2175394
• 2558568
• 5917257
• 7778600
• 8001158
• 8001159
• 8429023
• 8570650
• 8589685
• 8634719
• 8810293
• 8852653
• 8852658
• 8852660
• 9284755
• 9359036
• 9371807
• 9530628
• 9556633
• 9580670
• 9585428
• 9739043
• 9760196

Comment on mode of inheritance: Some evidence for monallelic from OMIM as well

Created: 31 Jan 2016, 7:45 p.m.

Comment on list classification: Good evidence from expert reviewer and OMIM

Created: 31 Jan 2016, 7:44 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, 5:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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