Vascular Malformations_Germline
Gene: AKT3
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
Gene: akt3 has been classified as Green List (High Evidence).
Gene: akt3 has been classified as Green List (High Evidence).
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