AKT2

AKT serine/threonine kinase 2
OMIM: 164731, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

No list AKT2 in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.8

review Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes mellitus, type II, 125853
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
Tags
  • curated_removed

Amber AKT2 in Segmental overgrowth disorders


Version 2.13
Latest signed off version: v2.1 (24 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416

Red AKT2 in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Diabetes mellitus, type II, OMIM:125853
  • Type 2 diabetes mellitus, MONDO:0005148

Green AKT2 in Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.5
Latest signed off version: v2.3 (25 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416

Green AKT2 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.61

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diabetes mellitus, type II, OMIM:125853
  • Type 2 diabetes mellitus, MONDO:0005148

Red AKT2 in Lipodystrophy - childhood onset


Version 2.15
Latest signed off version: v2.4 (19 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diabetes mellitus, type II, OMIM:125853
  • Type 2 diabetes mellitus, MONDO:0005148
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
  • Partial lipodystrophy

No list AKT2 in Mosaic skin disorders - deep sequencing


Version 1.5
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Overgrowth syndrome (not always mosaic in this case)
Tags
  • curated_removed

Green AKT2 in Monogenic diabetes


Version 2.42
Latest signed off version: v2.2 (25 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diabetes mellitus, type II, OMIM:125853
  • Type 2 diabetes mellitus, MONDO:0005148

Green AKT2 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 2: Growth disorders
Version 1.114

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

Amber AKT2 in Fetal anomalies


Version 1.678
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Tags
  • for-review

Red AKT2 in Neurological segmental overgrowth


Version 1.15
Latest signed off version: v1.4 (4 Mar 2020)

Component of the following Super Panels:

  • Cerebral malformations
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
    • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416