| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BabyScreen+ newborn screening v1.114 | TWIST1 |
Tommy Li Added phenotypes Sweeny-Cox syndrome, MIM# 617746; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Craniosynostosis 1, MIM# 123100; Robinow-Sorauf syndrome, MIM# 180750 for gene: TWIST1 Publications for gene TWIST1 were updated from 32487807; 32909287; 20301368 to 20301368; 32909287; 32487807 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.838 | TWIST1 | Zornitza Stark Marked gene: TWIST1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.838 | TWIST1 | Zornitza Stark Gene: twist1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.838 | TWIST1 | Zornitza Stark Phenotypes for gene: TWIST1 were changed from Saethre-Chotzen syndrome to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746; Robinow-Sorauf syndrome, MIM# 180750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.837 | TWIST1 | Zornitza Stark Publications for gene: TWIST1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.836 | TWIST1 | Zornitza Stark Classified gene: TWIST1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.836 | TWIST1 | Zornitza Stark Gene: twist1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.835 | TWIST1 | Zornitza Stark reviewed gene: TWIST1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 1, MIM# 123100, Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400, Sweeny-Cox syndrome, MIM# 617746, Robinow-Sorauf syndrome, MIM# 180750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.801 | TWIST1 | Lilian Downie reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32487807 PMID: 32909287 PMID: 20301368; Phenotypes: Craniosynostosis/Saethre-Chotzen Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | TWIST1 |
Zornitza Stark gene: TWIST1 was added gene: TWIST1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TWIST1 were set to Saethre-Chotzen syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||