| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Albinism or congenital nystagmus v0.14 | CASK |
Ivone Leong Added phenotypes Mental retardation, with or without nystagmus 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD; FG syndrome 4 300422 for gene: CASK Rating Changed from Green List (high evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.8 | CASK | Ivone Leong Classified gene: CASK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.8 | CASK | Ivone Leong Gene: cask has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.5 | CASK | Ivone Leong reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome 4 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD, Mental retardation, with or without nystagmus 300422; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Albinism or congenital nystagmus v0.4 | CASK |
Ivone Leong gene: CASK was added gene: CASK was added to Albinism or congenital nystagmus. Sources: Expert list Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD; FG syndrome 4 300422 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||