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Skeletal dysplasia

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association between somatic variants and Proteus is well established.
Created: 6 Jan 2021, 10:39 p.m. | Last Modified: 6 Jan 2021, 10:39 p.m.
Panel Version: 0.6005

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Proteus syndrome, somatic 176920

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

Eleanor Williams (Genomics England)

PMID: 33030203 - Lindhurst et al 2020 - mouse model ubiquitously expressing the AKT1 c.49G > A, p.(E17K) activating variant associated with Proteus syndrome (with mosaic expression of the variant). Lethality was observed with a variation in severity of phenotypes. They conclude that ubiquitous expression of Akt1E17K suppresses remodeling and inhibits the formation of a normal skin vasculature and suggest that this prevents proper circulation necessary to support the growing embryo.
Created: 6 Jan 2021, 3:20 p.m. | Last Modified: 6 Jan 2021, 3:20 p.m.
Panel Version: 0.6002

Publications

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Two patients reported for Cowden syndrome but functional evidence feels too weak to be a green gene

OMIM describes somatic GOF missense causing Proteus syndrome, but GOF germline missense for Cowden
Created: 14 Feb 2020, 4:09 a.m. | Last Modified: 14 Feb 2020, 4:09 a.m.
Panel Version: 0.1357

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

Phenotypes
Cowden syndrome 6; Proteus syndrome

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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cowden syndrome 6 615109
  • Proteus syndrome, somatic 176920
OMIM
164730
Clinvar variants
Variants in AKT1
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AKT1 was added gene: AKT1 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: AKT1 was set to Unknown Phenotypes for gene: AKT1 were set to Cowden syndrome 6 615109; Proteus syndrome, somatic 176920