PanelApp
  1. Genes and Genomic Entities
  2. AKT2

AKT2

AKT serine/threonine kinase 2
OMIM: 164731, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red AKT2 in Hyperinsulinism


Level 2: Endocrine disorders
Version 1.49

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

Green AKT2 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • AKT2-related familial partial lipodystrophy MONDO:0019192

Green AKT2 in Mendeliome


Version 1.3512

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
  • AKT2-related familial partial lipodystrophy MONDO:0019192

Green AKT2 in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.16

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 0.152

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 1.465

    		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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		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


    Level 2: Screening
    Version 0.20

    		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