The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.

doi:10.1016/j.gim.2022.07.020

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Article

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2022

Lai Abbe, Soucy Aubrie, El Achkar Christelle Moufawad, Barkovich Anthony J, Cao Yang, DiStefano Marina, Evenson Michael, Guerrini Renzo, Knight Devon, Lee Yi-Shan, Mefford Heather C, Miller David T, Mirzaa Ghayda, Mochida Ganesh, Rodan Lance H, Patel Mayher, Smith Lacey, Spencer Sara, Walsh Christopher A, Yang Edward, Yuskaitis Christopher J, Yu Timothy, Poduri Annapurna

Abstract excerpt

PURPOSE: Postzygotic (somatic) variants in the mTOR pathway genes cause a spectrum of distinct developmental abnormalities. Accurate classification of somatic variants in this group of disorders is crucial for affected individuals and their families. METHODS: The ClinGen Brain Malformation Variant Curation Expert Panel was formed to curate somatic variants associated with developmental brain malformations. We...

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PMID: 35997716
DOI: 10.1016/j.gim.2022.07.020
PMCID: PMC9883838

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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