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  2. Childhood solid tumours
  3. AKT1
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Childhood solid tumours

Gene: AKT1

Red List (low evidence)
AKT1 (AKT serine/threonine kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000142208
EnsemblGeneIds (GRCh37): ENSG00000142208
OMIM: 164730, Gene2Phenotype
AKT1 is in 11 panels

1 review

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: 1 report of 2 mutations in Cowden - await confirmation in other families before adding to panel.
Created: 28 Feb 2016, 4:25 p.m.
Created: 28 Feb 2016, 4:25 p.m.

Panel version: 0.37

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • IGH Breast cancer, somatic, 114480
  • Colorectal cancer, somatic, 114500
  • Ovarian cancer, somatic, 167000
  • {Schizophrenia, susceptibility to}, 181500 (2)
  • Proteus syndrome, somatic, 176920
  • Cowden syndrome 6, 615109
OMIM
164730
Clinvar variants
Variants in AKT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Feb 2016, Gel status: 1

Set publications

Ellen Thomas (Genomics England Curator)

Publications for AKT1 were set to PMID: 23246288

22 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

AKT1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen