Overgrowth
Gene: AKT2EnsemblGeneIds (GRCh38): ENSG00000105221
EnsemblGeneIds (GRCh37): ENSG00000105221
OMIM: 164731, Gene2Phenotype
AKT2 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated individuals reported with same de novo recurring missense variant, postulated to be activating, E17K.
Sources: Expert listCreated: 4 Jul 2020, 2:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypoinsulinemic hypoglycemia with hemihypertrophy, MIM# 240900
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hypoinsulinemic hypoglycemia with hemihypertrophy, MIM# 240900
- OMIM
- 164731
- Clinvar variants
- Variants in AKT2
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: akt2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: akt2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AKT2 was added gene: AKT2 was added to Overgrowth. Sources: Expert list Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AKT2 were set to 21979934 Phenotypes for gene: AKT2 were set to Hypoinsulinemic hypoglycemia with hemihypertrophy, MIM# 240900 Mode of pathogenicity for gene: AKT2 was set to Other Review for gene: AKT2 was set to GREEN