Neurological segmental overgrowth

Gene: AKT2

Red List (low evidence)

AKT2 (AKT serine/threonine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000105221
EnsemblGeneIds (GRCh37): ENSG00000105221
OMIM: 164731, Gene2Phenotype
AKT2 is in 10 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • HIHGHH
  • Hypoinsulinemic hypoglycemia with hemihypertrophy
  • Hypoinsulinemic hypoglycemia with hemihypertrophy,240900
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
OMIM
164731
Clinvar variants
Variants in AKT2
Penetrance
None
Panels with this gene

History Filter Activity

31 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: AKT2 was added gene: AKT2 was added to Neurological segmental overgrowth. Sources: Expert Review Red Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKT2 were set to HIHGHH; Hypoinsulinemic hypoglycemia with hemihypertrophy; Hypoinsulinemic hypoglycemia with hemihypertrophy,240900; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900