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Additional findings_Paediatric

Gene: EDNRB

Green List (high evidence)

EDNRB (endothelin receptor type B)
EnsemblGeneIds (GRCh38): ENSG00000136160
EnsemblGeneIds (GRCh37): ENSG00000136160
OMIM: 131244, Gene2Phenotype
EDNRB is in 9 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Waardenburg syndrome, type 4A, MIM# 277580

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Waardenburg syndrome, type 4A, MIM# 277580
OMIM
131244
Clinvar variants
Variants in EDNRB
Penetrance
None
Panels with this gene

History Filter Activity

24 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ednrb has been classified as Green List (High Evidence).

24 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EDNRB were changed from Hirschsprung disease; Waardenburg syndrome to Waardenburg syndrome, type 4A, MIM# 277580

24 Nov 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EDNRB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ednrb has been classified as Green List (High Evidence).

27 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Waardenburg syndrome for gene: EDNRB

27 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EDNRB was added gene: EDNRB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: EDNRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EDNRB were set to Hirschsprung disease