Inflammatory bowel disease
Gene: PTENEnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 31 panels
2 reviews
Nicola Poplawski (South Australian Clinical Genetics Service)
The evidence for a link between PTEN pathogenic variants and PTEN-hamartoma syndrome/Cowden/PTEN hamartoma syndrome/Bannayan-Riley-Ruvalcaba syndrome is strong. However the evidence for a causal link with monogenic inflammatory bowel disease is weak at best.Created: 7 Feb 2022, 6:02 a.m. | Last Modified: 7 Feb 2022, 6:02 a.m.
Panel Version: 0.63
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
GI polyps and diverticula are a feature of Cowden syndrome. The link between variants in PTEN and monogenic IBD appears based largely on experimental/mouse model evidence. There is a series of 34 individuals with PTEN variants and a range of autoimmune phenotypes reported in 22266152, including colitis. Considering PTEN-related conditions are relatively common as are auto-immune disorders, I am not convinced this is enough for causality.Created: 11 Apr 2020, 7:33 a.m. | Last Modified: 11 Apr 2020, 7:33 a.m.
Panel Version: 0.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Colitis
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Colitis
- OMIM
- 601728
- Clinvar variants
- Variants in PTEN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Overgrowth
- Additional findings_Adult
- Breast Cancer
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Colorectal Cancer and Polyposis
- Cancer Predisposition_Paediatric
- Common Variable Immunodeficiency
- Macrocephaly_Megalencephaly
- Facial papules
- Endometrial Cancer
- Leukodystrophy - paediatric
- Polymicrogyria and Schizencephaly
- Callosome
- Autism
- Thyroid Cancer
- Predominantly Antibody Deficiency
- Leukodystrophy - adult onset
- Kidney Cancer
- Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
- Incidentalome_PREGEN_DRAFT
- Inflammatory bowel disease
- Vasculitis
- Transplant Co-Morbidity Superpanel
- Hydrocephalus_Ventriculomegaly
- Vascular Malformations_Germline
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Mosaic skin disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pten has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PTEN were changed from to Colitis
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PTEN were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PTEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pten has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PTEN was added gene: PTEN was added to Inflammatory bowel disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTEN was set to Unknown