Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 56 panels

3 reviews

Zornitza Stark (Australian Genomics)

I don't know

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. I also note this gene is Amber on the PID panel.
Created: 11 Apr 2020, 7:32 a.m. | Last Modified: 11 Apr 2020, 7:33 a.m.
Panel Version: 1.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Colitis

Publications

Neil shah (GOSH)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. At least nine variants reported in Bannayan-Riley-Ruvalcaba syndrome 153480.
Created: 5 Sep 2016, 8:51 a.m.
Comment on phenotypes: Variants also reported in Cowden syndrome 1 158350, Lhermitte-Duclos syndrome 158350, Endometrial carcinoma, somatic 608089, Macrocephaly/autism syndrome 605309, {Melanoma, cutaneous malignant, 1} 155600, Squamous cell carcinoma, head and neck, somatic 275355, VATER association with macrocephaly and ventriculomegaly 276950, {Glioma susceptibility 2} 613028, {Meningioma} 607174, {Prostate cancer, somatic} 176807
Created: 5 Sep 2016, 8:44 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • PTEN hamartoma tumor syndrome
  • Bannayan-Riley-Ruvalcaba syndrome 153480
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 3

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

5 Sep 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

PTEN was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: UKGTN

5 Sep 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

PTEN was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Radboud University Medical Center, Nijmegen

5 Sep 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PTEN were set to PTEN hamartoma tumor syndrome; Bannayan-Riley-Ruvalcaba syndrome 153480;

5 Sep 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

PTEN was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory

5 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene PTEN were set to PTEN hamartoma tumor syndrome; Bannayan-Riley-Ruvalcaba syndrome 153480;

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PTEN was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PTEN was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list