Non-syndromic familial congenital anorectal malformationsGene: PTEN
The patient described in Reardon et al 2001 (PMID:11748304) with novel heterozygous germline mutation in PTEN (H61D), in a patient with features of VATER association does NOT show anorectal malformation.
Phenotypes of patients with overlapping phenotypes reported in Decipher with sequence variants do not include anorectal malformations https://decipher.sanger.ac.uk/gene/PTEN#variants/PTEN/patient-overlap/snvs
Created: 7 Oct 2018, 12:15 p.m.
PTEN is has a confirmed association with VACTERL ASSOCIATION WITH HYDROCEPHALUS in Gene2Phenotype with anal atresia as a phenotype
Created: 4 Aug 2018, 11:11 p.m.
Eleanor Williams: PTEN is has a confirmed associ
Phenotypes for gene PTEN were set to VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950
PTEN was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Other
PTEN was created by Eleanor Williams