Non-syndromic familial congenital anorectal malformations
Gene: PTEN
PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 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/snvsCreated: 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 phenotypeCreated: 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
-
- Neurological segmental overgrowth
- Radial dysplasia
- VACTERL-like phenotypes
- Familial breast cancer
- White matter disorders and cerebral calcification - narrow panel
- Non-syndromic familial congenital anorectal malformations
- Endometrial cancer pertinent cancer susceptibility
- Early onset or syndromic epilepsy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal neuromuscular disorders
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Breast cancer pertinent cancer susceptibility
- Adult onset neurodegenerative disorder
- Segmental overgrowth disorders - Deep sequencing
- Intellectual disability
- Pigmentary skin disorders
- Multiple endocrine tumours
- Mosaic skin disorders - deep sequencing
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Inherited polyposis and early onset colorectal cancer - germline testing
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Hereditary neuropathy
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma
- Cytopenias and congenital anaemias
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- PTEN Hamartoma Tumour Syndrome
- Inherited renal cancer
- COVID-19 research
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Adult onset leukodystrophy
- Malformations of cortical development
- Hydrocephalus
- Childhood solid tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Early onset dystonia
- Adult solid tumours cancer susceptibility
- Adult onset dystonia, chorea or related movement disorder
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Hereditary neuropathy or pain disorder
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