GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: AKT1

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD - Proteus (but not Cowden) is listed in Overgrowth (tall stature) syndromes with skeletal involvement gp of SD. Two cases with missense variants reported in association with Cowden (Orloff et al 2013). Proteus is associated with mosaicism for a somatic activating mutation E17K (1-50%). ? test sensitive enough ; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
Unknown

Phenotypes
Cowden syndrome 6 615109; Proteus syndrome, somatic 176920

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
NHS GMS

Phenotypes

Proteus syndrome, somatic 176920
Cowden syndrome 6 615109

OMIM

164730

Clinvar variants

Variants in AKT1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

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

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: AKT1