Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Joubert syndrome and other neurological ciliopathies v0.39 | WNT1 | Zornitza Stark Marked gene: WNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.39 | WNT1 | Zornitza Stark Gene: wnt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.39 | WNT1 | Zornitza Stark Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV (MIM#615220) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.38 | WNT1 | Zornitza Stark Publications for gene: WNT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.37 | WNT1 | Zornitza Stark Mode of inheritance for gene: WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.21 | WNT1 | Zornitza Stark Classified gene: WNT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.21 | WNT1 | Zornitza Stark Gene: wnt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.20 | WNT1 | Zornitza Stark reviewed gene: WNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XV (MIM#615220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.20 | WNT1 | Crystle Lee reviewed gene: WNT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26671912, 23499309, 23434763; Phenotypes: Osteogenesis imperfecta, type XV (MIM#615220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.0 | WNT1 |
Zornitza Stark gene: WNT1 was added gene: WNT1 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WNT1 was set to Unknown |