BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: PTEN
ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; gilissen_2014_known; sfari_20150206; UKGTN_v12; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; gonzalez_mantilla_2016; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function; UncertainCreated: 7 Feb 2017, 4:48 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cowden syndrome 1, 158350; Lhermitte-Duclos syndrome, 158350; Bannayan-Riley-Ruvalcaba syndrome, 153480; {Meningioma}, 607174; {Glioma susceptibility 2}, 613028; Macrocephaly/autism syndrome, 605309; PTEN hamartoma tumor syndrome; VATER association with macrocephaly and ventriculomegaly, 276950; {Prostate cancer, somatic}, 176807; Thyroid carcinoma, follicular, somatic, 188470; Malignant melanoma, somatic, 155600; Endometrial carcinoma, somatic, 608089; Squamous cell carcinoma, head and neck, somatic, 275355
Variants in this GENE are reported as part of current diagnostic practice
PTEN was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE
PTEN was created by ellenmcdonagh