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Vascular Malformations_Germline

Gene: AKT1

Red List (low evidence)
AKT1 (AKT serine/threonine kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000142208
EnsemblGeneIds (GRCh37): ENSG00000142208
OMIM: 164730, Gene2Phenotype
AKT1 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Somatic variants have been reported in association with vascular malformation. This gene is probably not suitable for a germline testing panel.
Created: 20 Jan 2020, 6:53 a.m. | Last Modified: 20 Jan 2020, 6:53 a.m.
Panel Version: 0.4
Activating mutations in this gene cause disease. Somatic activating variants cause Proteus syndrome, a disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Activating germline AKT1 variants have been reported in 2 cowden syndrome cases, that were negative for PTEN. Vascular malformations were not reported as part of the phenotype for these two cases.
Sources: Expert list
Created: 20 Jan 2020, 6:33 a.m.

Mode of inheritance
Other

Phenotypes
Proteus syndrome, somatic 176920; Cowden syndrome 6 615109

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 20 Jan 2020, 6:33 a.m.

Panel version: 0.1

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Proteus syndrome, somatic 176920
  • Cowden syndrome 6 615109
Tags
somatic
OMIM
164730
Clinvar variants
Variants in AKT1
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

2 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akt1 has been classified as Red List (Low Evidence).

20 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: akt1 has been classified as Red List (Low Evidence).

20 Jan 2020, Gel status: 2

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag somatic tag was added to gene: AKT1.

20 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: akt1 has been classified as Amber List (Moderate Evidence).

20 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: akt1 has been classified as Green List (High Evidence).

20 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

gene: AKT1 was added gene: AKT1 was added to Vascular Malformations_RMH. Sources: Expert list Mode of inheritance for gene: AKT1 was set to Other Publications for gene: AKT1 were set to 23246288 Phenotypes for gene: AKT1 were set to Proteus syndrome, somatic 176920; Cowden syndrome 6 615109 Mode of pathogenicity for gene: AKT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: AKT1 was set to GREEN