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 2.0

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

Red AKT2 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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

Green AKT2 in Mendeliome


Version 2.0

2 reviews 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 2.0

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 1.0

2 reviews 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 1.0

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 2.0

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 2.0

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 1.0

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