Hydrocephalus
Gene: AKT3
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
Added 'mosaicism' tag to reflect mosaicism.Created: 5 May 2017, 8:36 a.m.
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
Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Source NHS GMS was added to AKT3.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
Phenotypes for AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
Publications for AKT3 were set to 22729224; 23745724; 22500628; 22729223
This gene has been classified as Green List (High Evidence).
AKT3 was created by oniblock
AKT3 was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen