| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Pituitary hormone deficiency v0.181 | AKT3 | Chirag Patel Marked gene: AKT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.181 | AKT3 | Chirag Patel Gene: akt3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v0.181 | AKT3 |
Chirag Patel gene: AKT3 was added gene: AKT3 was added to Pituitary hormone deficiency. 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; 28190287 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. PMID 28190287 reports 1 individual with a de novo AKT3 p.Glu40Lys gain‑of‑function variant causing childhood‑onset megalencephaly, hypotonia, connective‑tissue laxity and growth‑hormone deficiency. PMID 38459620 reports 1 individual with a AKT3 p.Asp322Tyr gain‑of‑function variant causing megalencephaly, growth‑hormone deficiency and central hypothyroidism. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||