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| Cerebellar and Pontocerebellar Hypoplasia v0.164 | CAMK2B | Zornitza Stark Marked gene: CAMK2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.164 | CAMK2B | Zornitza Stark Gene: camk2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.164 | CAMK2B | Zornitza Stark Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, MIM# 617799; microcephaly; intellectual disability; behavioural problems | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.163 | CAMK2B | Sue White Classified gene: CAMK2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.163 | CAMK2B | Sue White Gene: camk2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.162 | CAMK2B |
Sue White gene: CAMK2B was added gene: CAMK2B was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAMK2B were set to 32875707 Phenotypes for gene: CAMK2B were set to microcephaly; intellectual disability; behavioural problems Review for gene: CAMK2B was set to GREEN Added comment: A review of published patients with CAMK2B reported 3 patients with de novo variants and cerebellar atrophy. Sources: Literature |
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