EDNRB

endothelin receptor type B
OMIM: 131244, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green EDNRB in Hirschsprung disease Level 2: Gastroenterological disorders Version 0.27	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green EDNRB in Mendeliome Version 1.3499	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome type 4A MONDO:0010192 sensorineural hearing loss pigmentary abnormalities Hirschsprung disease
Green EDNRB in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.238	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 4A, MIM# 277580
Red EDNRB in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.398	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Waardenburg syndrome, type 4A, MIM#277580
Green EDNRB in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 1.25 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Waardenburg syndrome, type 4A, MIM# 277580
Green EDNRB in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.82	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 4A, MIM# 277580
Green EDNRB in Additional findings_Paediatric Level 2: Screening Version 0.278	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Waardenburg syndrome, type 4A, MIM# 277580
Green EDNRB in Fetal anomalies Version 1.465	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Waardenburg syndrome, type 4A, MIM#277580 ABCD syndrome, MIM# 600501
Green EDNRB in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Waardenburg syndrome, type 4A, MIM# 277580 Tags deafness
Green EDNRB in Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 1.3	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Waardenburg syndrome type 4A MONDO:0010192