Non-syndromic familial congenital anorectal malformations

Gene: PTEN

Red List (low evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 52 panels

1 review

Eleanor Williams (Genomics England Curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: PTEN is has a confirmed associ

14 Aug 2018, Gel status: 1

Set penetrance

Eleanor Williams (Genomics England Curator)

Phenotypes for gene PTEN were set to VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950

3 Aug 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

PTEN was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Other

3 Aug 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

PTEN was created by Eleanor Williams