Segmental overgrowth disorders - Deep sequencing
Gene: AKT3EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 13 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Added tag to reflect mosaicism.Created: 5 May 2017, 8:34 a.m.
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; MPPH2; Macrocephaly and Overgrowth Syndromes; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: AKT3 rated as green based on expert review and confirmed DD gene.Created: 15 Nov 2016, 11:47 a.m.
Comment on list classification: Updated rating from Amber to Green because AKT3 in original list provided by Richard Scott.Created: 7 Nov 2016, 2:45 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Expert Review
- Phenotypes
-
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
- Macrocephaly and Overgrowth Syndromes
- Tags
- OMIM
- 611223
- Clinvar variants
- Variants in AKT3
- Penetrance
- Complete
- Panels with this gene
-
- Hydrocephalus
- Vascular skin disorders
- Segmental overgrowth disorders - Deep sequencing
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Mosaic skin disorders - deep sequencing
- Intellectual disability
- 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
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; MPPH2; Macrocephaly and Overgrowth Syndromes; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937; Macrocephaly and Overgrowth Syndromes
panel promoted to version 1
Rebecca Foulger (Genomics England curator)28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for AKT3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Upload gene information
Rebecca Foulger (Genomics England curator)AKT3 was added to Regional overgrowth disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)AKT3 was added to Regional overgrowth disorderspanel. Source: UKGTN
Added New Source
Rebecca Foulger (Genomics England curator)AKT3 was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Rebecca Foulger (Genomics England curator)AKT3 was added to Regional overgrowth disorderspanel. Sources: Expert Review
Created
Rebecca Foulger (Genomics England curator)AKT3 was created by rfoulger