AKT2

AKT serine/threonine kinase 2
OMIM: 164731, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red AKT2 in Hyperinsulinism Level 2: Endocrine disorders Version 1.30	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 1.18	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 1.2374	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	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 0.137 Component of the following Super Panels: Metabolic Disorders Superpanel	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	review	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 1.314	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	review	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	review	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