| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Joubert syndrome and other neurological ciliopathies v1.8 | CEP104 | Zornitza Stark Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.7 | CEP104 | Zornitza Stark edited their review of gene: CEP104: Changed phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.14 | CEP104 | Zornitza Stark Marked gene: CEP104 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.14 | CEP104 | Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.14 | CEP104 | Zornitza Stark Classified gene: CEP104 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.14 | CEP104 | Zornitza Stark Gene: cep104 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v0.13 | CEP104 |
Zornitza Stark gene: CEP104 was added gene: CEP104 was added to Joubert syndrome and other cerebellar malformations. Sources: Expert list Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP104 were set to 26477546 Phenotypes for gene: CEP104 were set to Joubert syndrome 25, MIM# 616781 Review for gene: CEP104 was set to GREEN Added comment: Three unrelated individuals reported, ID is part of the phenotype. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||