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Severe Paediatric Disorders v0.17 | CASK | Louise Daugherty Mode of inheritance for gene CASK was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CASK | Louise Daugherty reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CASK | Louise Daugherty Publications for gene CASK were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CASK | Louise Daugherty Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; FG syndrome 4, 300422; Mental retardation, with or without nystagmus, 300422 for gene: CASK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CASK | Louise Daugherty Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; FG syndrome 4, 300422; Mental retardation, with or without nystagmus, 300422 for gene: CASK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CASK | Louise Daugherty Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; FG syndrome 4, 300422; Mental retardation, with or without nystagmus, 300422 for gene: CASK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CASK | Louise Daugherty Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; Mental retardation, with or without nystagmus, 300422; FG syndrome 4, 300422 for gene: CASK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CASK | Louise Daugherty Source Next Generation Children Project was added to CASK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CASK |
Louise Daugherty Source Expert Review Green was added to CASK. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | CASK |
Louise Daugherty gene: CASK was added gene: CASK was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CASK was set to |