| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v0.91 | AKT3 | Chirag Patel Marked gene: AKT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.91 | AKT3 | Chirag Patel Gene: akt3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.91 | AKT3 |
Chirag Patel gene: AKT3 was added gene: AKT3 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AKT3 were set to 38459620; 35665751 Phenotypes for gene: AKT3 were set to overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283 Review for gene: AKT3 was set to RED Added comment: ClinGen DEFINITIVE association (Jul 2021) with GOF mechanism and only missense variants reported. PMID 35665751 reports 1 individual with a de novo AKT3 p.Gln78Arg gain‑of‑function variant causing congenital hypothyroidism (thyroid hypogenesis), megalencephaly and polymicrogyria. PMID 38459620 reports 1 individual with a AKT3 p.Asp322Tyr gain‑of‑function variant causing megalencephaly, growth hormone deficiency and central hypothyroidism. Sources: Literature |
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