| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebellar and Pontocerebellar Hypoplasia v1.59 | CDK5 | Zornitza Stark Publications for gene: CDK5 were set to 25560765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.58 | CDK5 | Zornitza Stark Classified gene: CDK5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.58 | CDK5 | Zornitza Stark Gene: cdk5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.57 | CDK5 | Zornitza Stark edited their review of gene: CDK5: Added comment: Upgraded to Amber following GenCC discrepancy resolution: single family with four affected individuals but extensive supportive experimental evidence including mouse models.; Changed rating: AMBER; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100; Changed phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.102 | CDK5 |
Zornitza Stark changed review comment from: Single consanguineous family with multiple affected individuals reported, lishencephaly prominent. Sources: Expert list; to: Single consanguineous family with multiple affected individuals reported, lissencephaly prominent. Sources: Expert list |
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| Cerebellar and Pontocerebellar Hypoplasia v0.102 | CDK5 | Zornitza Stark Marked gene: CDK5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.102 | CDK5 | Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.102 | CDK5 |
Zornitza Stark gene: CDK5 was added gene: CDK5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK5 were set to 25560765 Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342 Review for gene: CDK5 was set to RED Added comment: Single consanguineous family with multiple affected individuals reported, lishencephaly prominent. Sources: Expert list |
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