Hydrocephalus
Gene: AKT3EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 13 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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 GreenCreated: 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)
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, OMIM:615937
- Tags
- OMIM
- 611223
- Clinvar variants
- Variants in AKT3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Limb disorders
- Hydrocephalus
- Vascular skin disorders
- Segmental overgrowth disorders - Deep sequencing
- DDG2P
- Mosaic skin disorders - deep sequencing
- Early onset or syndromic epilepsy
- Fetal anomalies
- Severe microcephaly
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- Malformations of cortical development
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to AKT3.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
Set publications
Helen Brittain (Genomics England Curator)Publications for AKT3 were set to 22729224; 23745724; 22500628; 22729223
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Olivia Niblock (Genomics England Curator)AKT3 was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)AKT3 was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen