AKT2

AKT serine/threonine kinase 2
OMIM: 164731, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
No list AKT2 in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.11	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 - Deep sequencing Version 3.17 Latest signed off version: v3.3 (22 Mar 2023)	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 Tags Q3_23_promote_green Q3_23_NHS_review recurrent-variant
Red AKT2 in Insulin resistance (including lipodystrophy) Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.17	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 3.4 Latest signed off version: v3.0 (22 Mar 2023)	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 Tags to_be_confirmed_NHSE
Green AKT2 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	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
Amber AKT2 in Lipodystrophy - childhood onset Version 4.50 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber 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 Tags Q3_23_promote_green Q3_23_NHS_review
No list AKT2 in Mosaic skin disorders - deep sequencing Version 2.47 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900 Tags curated_removed
Green AKT2 in Monogenic diabetes Version 2.58 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 1.120	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
Green AKT2 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900 Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Green AKT2 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900
Red AKT2 in Neurological segmental overgrowth Version 2.12 Latest signed off version: v2.6 (22 Mar 2023) Component of the following Super Panels: Cerebral malformation	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