BRIDGE_SPEED_NEURO_20170705
Gene: AKT1

AKT1 (AKT serine/threonine kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000142208
EnsemblGeneIds (GRCh37): ENSG00000142208
OMIM: 164730, Gene2Phenotype
AKT1 is in 11 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 . Main mutation mechanism : Activating
Created: 28 Jul 2017, 8:38 a.m.

Mode of inheritance
Unknown

Publications

25529582

Mode of pathogenicity
Other

Created: 2 Aug 2017, 1:11 p.m.

Panel version: 0.191

Details

Mode of Inheritance

Unknown

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

Breast cancer, somatic, 114480
Colorectal cancer, somatic, 114500
Ovarian cancer, somatic, 167000
{Schizophrenia, susceptibility to}, 181500
Proteus syndrome, somatic, 176920
Cowden syndrome 6, 615109

OMIM

164730

Clinvar variants

Variants in AKT1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

AKT1 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source