| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe microcephaly v4.64 | AKT3 | Sarah Leigh reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.64 | AKT3 | Sarah Leigh Classified gene: AKT3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.64 | AKT3 | Sarah Leigh Gene: akt3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.19 | AKT3 |
Zornitza Stark changed review comment from: Activating variants in AKT2 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; to: 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 |
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| Severe microcephaly v2.19 | AKT3 |
Zornitza Stark 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 Added comment: Activating variants in AKT2 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 |
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