Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Joubert syndrome and other neurological ciliopathies v0.162 | TMEM231 | Zornitza Stark Marked gene: TMEM231 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.162 | TMEM231 | Zornitza Stark Gene: tmem231 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.162 | TMEM231 | Zornitza Stark Phenotypes for gene: TMEM231 were changed from to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.161 | TMEM231 | Zornitza Stark Publications for gene: TMEM231 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.160 | TMEM231 | Zornitza Stark Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.159 | TMEM231 | Zornitza Stark reviewed gene: TMEM231: Rating: GREEN; Mode of pathogenicity: None; Publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Phenotypes: Joubert syndrome 20, MIM# 614970, MONDO:0013994, Meckel syndrome 11, MIM# 615397, MONDO:0014164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Joubert syndrome and other neurological ciliopathies v0.0 | TMEM231 |
Zornitza Stark gene: TMEM231 was added gene: TMEM231 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMEM231 was set to Unknown |