Inherited non-medullary thyroid cancer
Gene: PTENComment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 17 variants reported.Created: 10 Jul 2017, 10:20 a.m.
I would include although, as with the others above, the other manifestations of PTEN disruption are likely to be phenotypically apparent. Also, Cowden associated NMTC tends to be FTC.Created: 13 Jun 2017, 6:17 a.m.
Clear association with benign and malignant thyroid diseaseCreated: 9 Jun 2017, 8:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cowdens syndrome, Lhermitte Duclos, Banyan-Riley-Ruvalcaba syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
All genes have been reviewed and the reviews evaluated. 07.08.2017
This gene has been classified as Green List (High Evidence).
Publications for PTEN were set to 9790504; https://doi.org/10.1016/j.mpdhp.2016.02.005;10594284; 22252256
Mode of inheritance for PTEN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
PTEN was added to Inherited non-medullary thyroid cancerpanel. Source: UKGTN
PTEN was added to Inherited non-medullary thyroid cancerpanel. Source: Radboud University Medical Center, Nijmegen
PTEN was added to Inherited non-medullary thyroid cancerpanel. Source: Illumina TruGenome Clinical Sequencing Services
PTEN was added to Inherited non-medullary thyroid cancerpanel. Sources: Emory Genetics Laboratory
PTEN was created by sleigh