Monogenic hearing loss
Gene: EDNRBComment 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
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
Comment on mode of inheritance: Some evidence for monallelic from OMIM as wellCreated: 31 Jan 2016, 7:45 p.m.
Comment on list classification: Good evidence from expert reviewer and OMIMCreated: 31 Jan 2016, 7:44 p.m.
Good evidence for causing Waardenburg syndrome (rare cause) and the diagnosis could be missed so put on green listCreated: 19 Oct 2015, 5:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: EDNRB 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 EDNRB were set to #277580:Waardenburg syndrome, type 4A; #600155:{Hirschsprung disease, susceptibility to, 2}; #600501:ABCD syndrome
Publications for EDNRB were set to 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
Mode of inheritance for EDNRB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Mode of inheritance for EDNRB was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
EDNRB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
EDNRB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
EDNRB was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert