Severe microcephaly
Gene: AKT3
AKT3 (AKT serine/threonine kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000117020
EnsemblGeneIds (GRCh37): ENSG00000117020
OMIM: 611223, Gene2Phenotype
AKT3 is in 13 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Six cases of microcephaly associated with deletions within 1q43-q44, which all include AKT3 (PMID: 32827175; 31929334; 30853971; 25424989). AKT3 has a limited associated with microcephaly in ClinGen (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6e3b524c-5d27-43d6-a0db-4f8f7cf1f872-2021-10-26T150030.155Z?page=1&size=25&search=)Created: 29 Feb 2024, 1:49 p.m. | Last Modified: 29 Feb 2024, 1:49 p.m.
Panel Version: 4.64
Zornitza Stark (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. You may wish to consider adding the CNV region to this panel rather than AKT3 alone, in which case I suspect the region has enough evidence for a Green rating.
Sources: Expert listCreated: 31 Aug 2020, 12:25 a.m. | Last Modified: 31 Aug 2020, 12:28 a.m.
Panel Version: 2.19
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
- Phenotypes
-
- Microcephaly
- OMIM
- 611223
- Clinvar variants
- Variants in AKT3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Vascular skin disorders
- Segmental overgrowth disorders - Deep sequencing
- Intellectual disability
- Severe microcephaly
- Mosaic skin disorders - deep sequencing
- Limb disorders
- Fetal anomalies
- DDG2P
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Hydrocephalus
History Filter Activity
29 Feb 2024, Gel status: 2
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: akt3 has been classified as Amber List (Moderate Evidence).
31 Aug 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: AKT3 was added gene: AKT3 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AKT3 were set to 32827175; 31929334; 30853971; 30053339; 25424989 Phenotypes for gene: AKT3 were set to Microcephaly Review for gene: AKT3 was set to AMBER