Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Choanal atresia v0.5 | CTNND1 | Zornitza Stark Marked gene: CTNND1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Choanal atresia v0.5 | CTNND1 | Zornitza Stark Gene: ctnnd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Choanal atresia v0.5 | CTNND1 | Zornitza Stark Phenotypes for gene: CTNND1 were changed from chonal atresia to Blepharocheilodontic syndrome 2, MIM# 617681; MONDO:0040503; chonal atresia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Choanal atresia v0.4 | CTNND1 | Zornitza Stark Mode of inheritance for gene: CTNND1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Choanal atresia v0.3 | CTNND1 | Zornitza Stark reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32196547; Phenotypes: Blepharocheilodontic syndrome 2, MIM# 617681, MONDO:0040503; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Choanal atresia v0.1 | CTNND1 |
Zornitza Stark Source Genomics England PanelApp was added to CTNND1. Added phenotypes chonal atresia for gene: CTNND1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Choanal atresia v0.0 | CTNND1 |
Zornitza Stark gene: CTNND1 was added gene: CTNND1 was added to Choanal atresia. Sources: Expert Review Green,Literature Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTNND1 were set to 32196547 Phenotypes for gene: CTNND1 were set to chonal atresia |