Neurological segmental overgrowth
Gene: AKT2EnsemblGeneIds (GRCh38): ENSG00000105221
EnsemblGeneIds (GRCh37): ENSG00000105221
OMIM: 164731, Gene2Phenotype
AKT2 is in 12 panels
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Details
- Mode of Inheritance
- 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
- OMIM
- 164731
- Clinvar variants
- Variants in AKT2
- Penetrance
- None
- Panels with this gene
-
- Segmental overgrowth disorders - Deep sequencing
- DDG2P
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- Insulin resistance (including lipodystrophy)
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- Familial diabetes
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- Congenital hyperinsulinism
- Monogenic diabetes
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AKT2 were changed from HIHGHH; Hypoinsulinemic hypoglycemia with hemihypertrophy; Hypoinsulinemic hypoglycemia with hemihypertrophy,240900; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 to Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: AKT2 was added gene: AKT2 was added to Neurological segmental overgrowth. Sources: Expert Review Red Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKT2 were set to HIHGHH; Hypoinsulinemic hypoglycemia with hemihypertrophy; Hypoinsulinemic hypoglycemia with hemihypertrophy,240900; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900