Gastrointestinal epithelial barrier disorders
Gene: PTENComment on list classification: Internal clinical team have advised that whilst variants in this gene are linked to gastrointestinal phenotypes, they are more commonly associated with polyp presentation and risk of tumour development, and therefore not a classical fit for this disorder.
Taking this clinical opinion and the two green reviews, I will class this gene as amberCreated: 25 Jul 2018, 4:11 p.m.
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.
Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Gene: pten has been classified as Amber List (Moderate Evidence).
Emory Genetics Laboratory was added to PTEN. Panel: Gastrointestinal epithelial barrier disorders Model of inheritance for gene PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene PTEN were set to PTEN hamartoma tumor syndrome, Bannayan-Riley-Ruvalcaba syndrome 153480
PTEN was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
PTEN was created by Olivia Niblock