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Hyperinsulinism v1.26 AKT2 Zornitza Stark Marked gene: AKT2 as ready
Hyperinsulinism v1.26 AKT2 Zornitza Stark Gene: akt2 has been classified as Red List (Low Evidence).
Hyperinsulinism v1.22 AKT2 Ain Roesley Classified gene: AKT2 as Red List (low evidence)
Hyperinsulinism v1.22 AKT2 Ain Roesley Gene: akt2 has been classified as Red List (Low Evidence).
Hyperinsulinism v1.21 AKT2 Ain Roesley edited their review of gene: AKT2: Changed rating: RED
Hyperinsulinism v1.21 AKT2 Ain Roesley Classified gene: AKT2 as Amber List (moderate evidence)
Hyperinsulinism v1.21 AKT2 Ain Roesley Gene: akt2 has been classified as Amber List (Moderate Evidence).
Hyperinsulinism v1.21 AKT2 Ain Roesley Classified gene: AKT2 as Amber List (moderate evidence)
Hyperinsulinism v1.21 AKT2 Ain Roesley Gene: akt2 has been classified as Amber List (Moderate Evidence).
Hyperinsulinism v1.20 AKT2 Ain Roesley edited their review of gene: AKT2: Changed rating: AMBER; Changed phenotypes: Diabetes mellitus, type II MIM#125853, Hypoinsulinemic hypoglycemia with hemihypertrophy MIM#240900
Hyperinsulinism v1.20 AKT2 Ain Roesley changed review comment from: at least 5x individuals with hypoglycemia and de novo missense

Glu17Lys is a hotspot and GoF as a mechanism of disease
Sources: Literature; to: at least 5x individuals with hypoglycemia and de novo missense

Glu17Lys is a hotspot and GoF as a mechanism of disease

However, undetectable levels of serum insulin and C-peptide

Sources: Literature
Hyperinsulinism v1.20 AKT2 Ain Roesley Classified gene: AKT2 as Green List (high evidence)
Hyperinsulinism v1.20 AKT2 Ain Roesley Gene: akt2 has been classified as Green List (High Evidence).
Hyperinsulinism v1.19 AKT2 Ain Roesley gene: AKT2 was added
gene: AKT2 was added to Hyperinsulinism. Sources: Literature
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT2 were set to 21979934; 35602880; 24285683
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II MIM#125853; Hypoinsulinemic hypoglycemia with hemihypertrophy MIM#240900
Review for gene: AKT2 was set to GREEN
gene: AKT2 was marked as current diagnostic
Added comment: at least 5x individuals with hypoglycemia and de novo missense

Glu17Lys is a hotspot and GoF as a mechanism of disease
Sources: Literature