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Mosaic skin disorders

Gene: AKT1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Proteus syndrome, somatic 176920

Publications

Created: 18 Feb 2021, 7:29 a.m.
Last Modified: 18 Feb 2021, 7:29 a.m.
Panel version: 0.2

Mathew Wallis (Tasmanian Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 18 Feb 2021, 6:12 a.m.
Last Modified: 18 Feb 2021, 6:12 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Proteus syndrome, somatic 176920
Tags
somatic
OMIM
164730
Clinvar variants
Variants in AKT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: AKT1.

18 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AKT1 were changed from Proteus syndrome to Proteus syndrome, somatic 176920

18 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AKT1 was added gene: AKT1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AKT1 were set to 33030203; 21793738 Phenotypes for gene: AKT1 were set to Proteus syndrome