Non-syndromic familial congenital anorectal malformations

Gene: EDNRB

EDNRB is associated with ABCD syndrome, Waardenburg syndrome, type 4A and {Hirschsprung disease, susceptibility to, 2} in OMIM and ABCD SYNDROME in Gene2Phenotype. Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine and patients with Waardenburg syndrome can show Hirschsprung disease. Hirschspring disease is covered by the Familial Hirschsprung Disease panel in PanelApp.

Created: 1 Nov 2018, 3:25 p.m.

Comment on phenotypes: Added phenotype from publication PMID:17618893

Created: 14 Aug 2018, 3:42 p.m.

This gene has been included on the panel because of a report in Moore and Zaahl 2007 (PMID:17618893) who looked at the EDNRB gene in 14 unrelated South African subjects with sporadic ARMs and 20 population-matched controls. 3 variants were identified that appeared in higher frequency in ARMs patients than in controls.

Created: 4 Aug 2018, 10:37 p.m.