Polymicrogyria and Schizencephaly
Gene: AKT3EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 18 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 28969385;
- 15/20 patients with constitutional mutation in AKT3 presented with polymicrogyria
- de novo and missenseCreated: 24 Aug 2020, 4:24 a.m. | Last Modified: 24 Aug 2020, 4:25 a.m.
Panel Version: 0.92
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Brain Malformations Flagship
- Phenotypes
-
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
- OMIM
- 611223
- Clinvar variants
- Variants in AKT3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Polydactyly
- Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
- Microcephaly
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Fetal anomalies
- Additional findings_Paediatric
- Mosaic skin disorders
- Mendeliome
- Polymicrogyria and Schizencephaly
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: akt3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AKT3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AKT3 was added gene: AKT3 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: AKT3 was set to Unknown