Non-syndromic familial congenital anorectal malformationsGene: HHIP
Comment on phenotypes: Added phenotype from publication PMID:27082974
Created: 14 Aug 2018, 3:47 p.m.
Gene added to panel as mentioned in Gao et al 2016 (PMID: 27082974) who found that patients with 3 SNPs in this gene (called HH in the paper) were associated with a greater risk of Hirschsprung's disease (HSCR) and/or ARM. Sequencing of rs61730970 and rs146535482 revealed a loss of heterozygosity and SNPs at these loci in patients with ARM. The paper doesn't suggest that these SNPs are causative.
Created: 4 Aug 2018, 9:56 p.m.
Eleanor Williams: Gene added to panel as mention
Phenotypes for gene: HHIP were set to anorectal malformation
HHIP was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature
HHIP was created by Eleanor Williams