Non-syndromic familial congenital anorectal malformationsGene: INTU
Comment on phenotypes: Added phenotype from publication PMID:23936318
Created: 14 Aug 2018, 3:53 p.m.
Gene added to the panel a listed as a candidate gene inWong et al 2013 (PMID:23936318) who performed a gene network analysis using genes identified in CNVs in an earlier paper (Wong et al 2013 (PMID: 23108157)). In this earlier paper 2 ARM patients (one with with Down syndrome) were identified 34.4 kb heterozygous deletion spanning exon 5 to exon 8 of INTU.
Created: 4 Aug 2018, 9:43 p.m.
Eleanor Williams: Gene added to the panel a list
Phenotypes for gene: INTU were set to anorectal malformation
INTU was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature
INTU was created by Eleanor Williams