Genomics England
GMS Panels
Panels
Genes and Entities

AKT2

AKT serine/threonine kinase 2
OMIM: 164731
PanelMode of inheritanceDetails
3 panels
Green
in Congenital hyperinsulinism
R-numbers: R144
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypoinsulinemic hypoketotic hypoglycemia, 240900, Autosomal dominant fasting hypoglycaemia and asymmetrical overgrowth
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900, Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Green
in Monogenic diabetes
R-numbers: R141
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diabetes mellitus, type II, 125853, Severe insulin resistance, partial lipodystrophy and diabetes