Vascular Malformations_Germline

Gene: AKT3

Green List (high evidence)

AKT3 (AKT serine/threonine kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 18 panels

1 review

Chris Richmond (Genetic Health Queensland)

Green List (high evidence)

Established cause of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937). Capillary malformations reported in PMID 23745724 & 22729224, both cases de novo AKT3 variants.
Created: 1 Jul 2020, 5:26 a.m. | Last Modified: 1 Jul 2020, 5:26 a.m.
Panel Version: 0.94

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (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 (615937)
OMIM
611223
Clinvar variants
Variants in AKT3
Penetrance
unknown
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
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akt3 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: akt3 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 0

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 Inherited Vascular Malformations. 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 23745724; 22729224 Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937) Penetrance for gene: AKT3 were set to unknown Mode of pathogenicity for gene: AKT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments