Mosaic brain disorders - deep sequencing
Gene: AKT1

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

3 reviews

Sarah Leigh (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 11 Oct 2023, 8:53 a.m.
Last Modified: 11 Oct 2023, 8:53 a.m.
Panel version: 0.133

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Proteus syndrome, somatic, OMIM:176920; Cowden syndrome 6, OMIM: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: 31 May 2023, 9:33 a.m.
Last Modified: 31 May 2023, 9:33 a.m.
Panel version: 0.100

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 5:26 p.m. | Last Modified: 1 Feb 2023, 5:26 p.m.

Panel Version: 0.93

Review submitted on behalf of Dr Lara Menzies, Dr Wendy Jones, Dr Amy McTague. Mode of inheritance: Mosaic. Publications: For summary see Jansen et al 2015 and above MTOR summary papers. Mechanism: GOF (MTOR Pathway). Penetrance: variable penetrance.
Created: 21 Dec 2022, 12:16 p.m. | Last Modified: 21 Dec 2022, 12:16 p.m.

Panel Version: 0.2

Phenotypes
Proteus syndrome, Cowden syndrome, NB some additional phenotypes relating to when variants are found in this gene within tumours, not relevant to this panel indication

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: 21 Dec 2022, 12:16 p.m.
Last Modified: 1 Feb 2023, 5:26 p.m.
Panel version: 0.93

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Expert list

Phenotypes

Proteus syndrome, somatic, OMIM:176920
Cowden syndrome 6, OMIM: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

11 Oct 2023, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to AKT1.

31 May 2023, Gel status: 3