Microcephaly
Gene: AKT3EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Activating variants in AKT3 and micro duplications are associated with macrocephaly/megalencephaly. Note that deletions involving AKT3 have consistently been associated with microcephaly. However, most involve at least one other gene apart from AKT3. One family reported with only AKT3 deleted: deletion was inherited from a phenotypically normal parent, suggesting either additional effects in bigger deletions or incomplete penetrance.Created: 31 Aug 2020, 12:19 a.m. | Last Modified: 31 Aug 2020, 12:28 a.m.
Panel Version: 0.171
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microcephaly
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Microcephaly
- Tags
- OMIM
- 611223
- Clinvar variants
- Variants in AKT3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Polydactyly
- Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
- Microcephaly
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Fetal anomalies
- Additional findings_Paediatric
- Mosaic skin disorders
- Mendeliome
- Polymicrogyria and Schizencephaly
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: akt3 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: AKT3 were changed from to Microcephaly
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AKT3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: akt3 has been classified as Amber List (Moderate Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: AKT3.
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AKT3 was added gene: AKT3 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AKT3 was set to Unknown