| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital hypothyroidism v0.94 | CDC42 | Chirag Patel Publications for gene: CDC42 were set to 30872706; 29335451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.93 | CDC42 | Chirag Patel Marked gene: CDC42 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.93 | CDC42 | Chirag Patel Gene: cdc42 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.93 | CDC42 | Chirag Patel Classified gene: CDC42 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.93 | CDC42 | Chirag Patel Gene: cdc42 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v0.92 | CDC42 |
Chirag Patel gene: CDC42 was added gene: CDC42 was added to Congenital hypothyroidism. Sources: Literature Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDC42 were set to 30872706; 29335451 Phenotypes for gene: CDC42 were set to Congenital hypothyroidism, MONDO:0018612 Review for gene: CDC42 was set to AMBER Added comment: ClinGen DEFINITIVE for Takenouchi-Kosaki syndrome (Oct 2021). 3 individuals with Takenouchi-Kosaki syndrome and congenital hypothyroidism. They all had the same rare de novo missense variant in CDC42 (p.Tyr64Cys). C. elegans knock‑in model demonstrated a hypomorphic loss‑of‑function effect. (NB 1 overlapping family between PMID 29335451 and PMID 30872706) Sources: Literature |
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