BRIDGE_SPEED_NEURO_20170705
Gene: PTEN

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 54 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Loss of function; Uncertain
Created: 28 Jul 2017, 10:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

25529582
24896178
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 6:26 p.m.

Panel version: 0.191

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

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

OMIM

601728

Clinvar variants

Variants in PTEN

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PTEN was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created