Hydrocephalus

Gene: AKT3

Green List (high evidence)

AKT3 (AKT serine/threonine kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 11 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Ellen McDonagh (Genomics England Curator)

Added 'mosaicism' tag to reflect mosaicism.
Created: 5 May 2017, 8:36 a.m.

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Sufficient cases with this phenotype and with hemimegalencephaly, however somatic mutations commonly seen. Appropriate for use, however mutational frequency variable and will be tissue specific.
Created: 27 Apr 2017, 1:57 p.m.

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

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
Tags
mosaicism somatic
OMIM
611223
Clinvar variants
Variants in AKT3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to AKT3.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937

4 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for AKT3 were set to 22729224; 23745724; 22500628; 22729223

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

AKT3 was created by oniblock

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

AKT3 was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen