BRIDGE_SPEED_NEURO_20170705
Gene: PIK3CA

PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 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_UKGTN_v12 . Main mutation mechanism : Activating
Created: 28 Jul 2017, 10:34 a.m.

Mode of inheritance
Unknown

Publications

25529582
Version 12 ukgtn.nhs.uk

Mode of pathogenicity
Other

Created: 2 Aug 2017, 6:01 p.m.

Panel version: 0.191

Details

Mode of Inheritance

Unknown

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

Ovarian cancer, somatic, 167000
Breast cancer, somatic, 114480
Colorectal cancer, somatic, 114500
Gastric cancer, somatic, 613659
Hepatocellular carcinoma, somatic, 114550
Nonsmall cell lung cancer, somatic, 211980
Keratosis, seborrheic, somatic, 182000
Nevus, epidermal, somatic, 162900
CLOVE syndrome, somatic, 612918
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501
Cowden syndrome 5, 615108

OMIM

171834

Clinvar variants

Variants in PIK3CA

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PIK3CA was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created