Severe microcephalyGene: AKT3
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 list
Created: 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
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