PanelApp (staging)
  1. Genes and Genomic Entities
  2. AKT2

AKT2

AKT serine/threonine kinase 2
OMIM: 164731, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red AKT2 in Hyperinsulinism


Level 2: Endocrine disorders
Version 1.30

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Diabetes mellitus, type II MIM#125853
  • Hypoinsulinemic hypoglycemia with hemihypertrophy MIM#240900

Green AKT2 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.17

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy 240900

Green AKT2 in Mendeliome


Version 1.2302

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
  • Diabetes mellitus, type II , MIM#125853

Green AKT2 in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, MIM# 240900

Red AKT2 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.136

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Diabetes mellitus, type II, 125853

    Red AKT2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Severe insulin resistance and diabetes mellitus

    Green AKT2 in Fetal anomalies


    Version 1.313

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
    • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900

    Red AKT2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Severe insulin resistance and diabetes mellitus

    Green AKT2 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Diabetes mellitus, type II, 125853
    • Severe insulin resistance, partial lipodystrophy and diabetes