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| Cerebellar and Pontocerebellar Hypoplasia v1.89 | CDK5 | Zornitza Stark Publications for gene: CDK5 were set to 25560765; 32273484; 32097629; 28854363; 7490100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.88 | CDK5 | Zornitza Stark Classified gene: CDK5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.88 | CDK5 | Zornitza Stark Gene: cdk5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.87 | CDK5 | Zornitza Stark edited their review of gene: CDK5: Added comment: PMID: 40186457 (2025) - Homozygous missense variant c.149G>A (p.Arg50Gln) in an infant with diffuse agyria, cerebellar hypoplasia, agenesis of the corpus callosum, refractory seizures, pyramidal signs, microcephaly, and growth failure. The disease course and severity were similar to those observed in the patients in the first report. Functional studies support deleterious effect of the variant.; Changed rating: GREEN; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100, 40186457 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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