Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: PTEN
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
Based on the review from Zornitza Stark, this gene has been demoted to amber on this panel.Created: 19 Feb 2024, 9:40 a.m. | Last Modified: 19 Feb 2024, 9:40 a.m.
Panel Version: 1.42
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} 176807Created: 5 Sep 2016, 8:44 a.m.
Gene: pten has been classified as Amber List (Moderate Evidence).
Publications for gene: PTEN were set to
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
PTEN was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: UKGTN
PTEN was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for PTEN were set to PTEN hamartoma tumor syndrome; Bannayan-Riley-Ruvalcaba syndrome 153480;
PTEN was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory
Phenotypes for gene PTEN were set to PTEN hamartoma tumor syndrome; Bannayan-Riley-Ruvalcaba syndrome 153480;
PTEN was created by ellenmcdonagh
PTEN was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list