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| Mendeliome v2.0 | CDK5RAP3 | Gene migrated from ENSG00000108465 to ENSG00000108465 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4916 | CDK5RAP3 |
Sangavi Sivagnanasundram changed review comment from: CDK5RAP3 functions as a regulator that restricts UFMylation which is important for protein function. No pathogenic variants reported in ClinVar across the gene. Currently, no OMIM entry for this GDA. This publication reports two probands with a severe neurodevelopmental disorder. Affected probands presented with foetal growth restriction, foetal akinesia, pontocerebellar hypoplasia, arthrogryposis and hepatic pathology. A homozygous deep‑intronic splice variant (c.334+243G>A) was identified in both probands. Supportive function assay showed loss of CDK5RAP3 protein and rescue by antisense-oligonucleotides however only one patient-derived cell line was used. Gene to be RED. More evidence is required to upgrade to AMBER. Sources: Literature; to: CDK5RAP3 functions as a regulator that restricts UFMylation which is important for protein function. No pathogenic variants reported in ClinVar across the gene. Currently, no OMIM entry for this GDA. This publication reports two probands with a severe neurodevelopmental disorder. Affected probands presented with foetal growth restriction, foetal akinesia, pontocerebellar hypoplasia, arthrogryposis and hepatic pathology. A homozygous deep‑intronic splice variant (c.334+243G>A) was identified in both probands. Supportive function assay showed loss of CDK5RAP3 protein and rescue by antisense-oligonucleotides however only one patient-derived cell line was used. Gene to be RED. More evidence is required to upgrade to the GDA. Sources: Literature |
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| Mendeliome v1.4916 | CDK5RAP3 |
Sangavi Sivagnanasundram gene: CDK5RAP3 was added gene: CDK5RAP3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CDK5RAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK5RAP3 were set to 42045457 Phenotypes for gene: CDK5RAP3 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: CDK5RAP3 was set to RED Added comment: CDK5RAP3 functions as a regulator that restricts UFMylation which is important for protein function. No pathogenic variants reported in ClinVar across the gene. Currently, no OMIM entry for this GDA. This publication reports two probands with a severe neurodevelopmental disorder. Affected probands presented with foetal growth restriction, foetal akinesia, pontocerebellar hypoplasia, arthrogryposis and hepatic pathology. A homozygous deep‑intronic splice variant (c.334+243G>A) was identified in both probands. Supportive function assay showed loss of CDK5RAP3 protein and rescue by antisense-oligonucleotides however only one patient-derived cell line was used. Gene to be RED. More evidence is required to upgrade to AMBER. Sources: Literature |
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