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Hearing loss

Gene: EDNRB

Green List (high evidence)

EDNRB (endothelin receptor type B)
EnsemblGeneIds (GRCh38): ENSG00000136160
EnsemblGeneIds (GRCh37): ENSG00000136160
OMIM: 131244, Gene2Phenotype
EDNRB is in 8 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, 1:45 p.m.
Comment on mode of inheritance: Confirmed in OMIM.
Created: 17 Feb 2016, 2:34 p.m.

Jun Shen (Harvard Medical School)

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

Damian Smedley (Genomics England Curator)

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.

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, 5:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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
  • #277580:Waardenburg syndrome, type 4A
  • #600155:{Hirschsprung disease, susceptibility to, 2}
  • #600501:ABCD syndrome
OMIM
131244
Clinvar variants
Variants in EDNRB
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 EDNRB were set to #277580:Waardenburg syndrome, type 4A; #600155:{Hirschsprung disease, susceptibility to, 2}; #600501:ABCD syndrome

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

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

17 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for EDNRB 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: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for EDNRB was changed to 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).

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

EDNRB 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)

EDNRB 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)

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