EDNRB

Gene name: endothelin receptor type B
OMIM ID: 131244
Chromosome location: 13q22.3

Mutations

Disease/Phenotype	Waardenburg syndrome, type 4A
Reference transcript	NM_000115.3
DNA Change	c.1133A>G
A.A. Change	p.Asn378Ser
Exon/Intron	exon 7
Mutation Type	substitution
Reference	Doubaj Y, Pingault V, Elalaoui SC, Ratbi I, Azouz M, Zerhouni H, Ettayebi F, Sefiani A.A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome. Mol Syndromol. 2015 Feb;6(1):44-9.

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Disease/Phenotype	Goldberg-Shprintzen megacolon Syndrome
Reference transcript	NM_000115.3
DNA Change	c.914G>A
A.A. Change	p.Ser305Asn
Exon/Intron	exon 4
Mutation Type	substitution
Reference	Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CH, Meijers C, Hofstra RM.A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). J Med Genet. 1999 Jun;36(6):485-9.

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