Vascular Malformations_Somatic
Gene: AKT3EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 18 panels
1 review
Chris Richmond (Genetic Health Queensland)
Gain of function. "De Novo Somatic Mutations in Components of the PI3K-AKT3-mTOR Pathway Cause Hemimegalencephaly" (PMID 22729223). CM are reported in this condition (see review on germline panel)Created: 2 Jul 2020, 12:17 a.m. | Last Modified: 2 Jul 2020, 12:17 a.m.
Panel Version: 0.9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937)
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937)
- OMIM
- 611223
- Clinvar variants
- Variants in AKT3
- Penetrance
- unknown
- Publications
-
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Mode of Pathogenicity
- Other
- 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: akt3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Chris Richmond (Genetic Health Queensland)gene: AKT3 was added gene: AKT3 was added to Vascular Malformations_Somatic. Sources: Expert Review Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (615937) Penetrance for gene: AKT3 were set to unknown Mode of pathogenicity for gene: AKT3 was set to Other Review for gene: AKT3 was set to GREEN gene: AKT3 was marked as current diagnostic