Activity
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6 actions
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| Early onset or syndromic epilepsy v8.57 | CDK5 | Eleanor Williams Phenotypes for gene: CDK5 were changed from Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342 to Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342; lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.33 | CDK5 | Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 2 unrelated families with the same severe phenotype and supportive animal models. Inclusion on this panel would also enable inclusion on the R27 Paediatric disorders super panel.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 2 unrelated families with the same severe phenotype comprising lissencephaly with seizures and supportive animal models. Inclusion on this panel would also enable inclusion on the R27 Paediatric disorders super panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.33 | CDK5 | Arina Puzriakova Classified gene: CDK5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.33 | CDK5 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 2 unrelated families with the same severe phenotype and supportive animal models. Inclusion on this panel would also enable inclusion on the R27 Paediatric disorders super panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.33 | CDK5 | Arina Puzriakova Gene: cdk5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.32 | CDK5 |
Arina Puzriakova gene: CDK5 was added gene: CDK5 was added to Early onset or syndromic epilepsy. Sources: Literature Q3_25_promote_green tags were added to gene: CDK5. Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK5 were set to 25560765; 40186457; 28854363; 8855328 Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342 Review for gene: CDK5 was set to GREEN Added comment: - PMID: 25560765 (2015) - Homozygous splice site variant g.IVS8+1G>A p.V162SfsX19 segregated with a lethal form of lissencephaly with cerebellar hypoplasia in 4 patients and 25 healthy relatives from one consanguineous family. Affected newborns had dysmorphic facial features, HC in normal-low range, lymphedema, arthrogryposis multiplex, and intractable seizures. Functional studies of the variant showed loss-of-function of the gene product. - 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. Animal models: Brains of Cdk5-null mice lacked cortical laminar structure and cerebellar foliation (PMID: 8855328). Cdk5 knockout in the ferret cerebral cortex also markedly impaired cortical folding (PMID: 28854363). Sources: Literature |
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