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| Mendeliome v2.0 | CDK5 | Gene migrated from ENSG00000164885 to ENSG00000164885 (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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| Mendeliome v1.3146 | CDK5 | Zornitza Stark Publications for gene: CDK5 were set to 25560765; 32273484; 32097629; 28854363; 7490100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3145 | CDK5 | Zornitza Stark Classified gene: CDK5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3145 | CDK5 | Zornitza Stark Gene: cdk5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3143 | CDK5 | Arina Puzriakova reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: None; Publications: 40186457; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1212 | CDK5R1 | Zornitza Stark Phenotypes for gene: CDK5R1 were changed from Intellectual disability; autism to Neurodevelopmental disorder, MONDO:0700092, CDK5R1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1211 | CDK5R1 | Zornitza Stark edited their review of gene: CDK5R1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CDK5R1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.565 | CDK5 | Zornitza Stark Publications for gene: CDK5 were set to 25560765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.564 | CDK5 | Zornitza Stark Classified gene: CDK5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.564 | CDK5 | Zornitza Stark Gene: cdk5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.563 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6646 | CDK5RAP2 | Zornitza Stark Marked gene: CDK5RAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6646 | CDK5RAP2 | Zornitza Stark Gene: cdk5rap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6646 | CDK5RAP2 | Zornitza Stark Phenotypes for gene: CDK5RAP2 were changed from to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6645 | CDK5RAP2 | Zornitza Stark Publications for gene: CDK5RAP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6644 | CDK5RAP2 | Zornitza Stark Mode of inheritance for gene: CDK5RAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6643 | CDK5RAP2 | Zornitza Stark reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2641 | CDK5 | Zornitza Stark changed review comment from: Single consanguineous family with multiple affected individuals reported.; to: Single consanguineous family with multiple affected individuals reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2641 | CDK5 | Zornitza Stark Marked gene: CDK5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2641 | CDK5 | Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2641 | CDK5 | Zornitza Stark Phenotypes for gene: CDK5 were changed from to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2640 | CDK5 | Zornitza Stark Publications for gene: CDK5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2639 | CDK5 | Zornitza Stark Mode of inheritance for gene: CDK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2638 | CDK5 | Zornitza Stark Classified gene: CDK5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2638 | CDK5 | Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2637 | CDK5 | Zornitza Stark reviewed gene: CDK5: Rating: RED; Mode of pathogenicity: None; Publications: 25560765; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1133 | CDK5R1 | Zornitza Stark Marked gene: CDK5R1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1133 | CDK5R1 | Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1133 | CDK5R1 | Zornitza Stark Mode of inheritance for gene: CDK5R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1132 | CDK5R1 | Zornitza Stark Phenotypes for gene: CDK5R1 were changed from to Intellectual disability; autism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1131 | CDK5R1 | Zornitza Stark Publications for gene: CDK5R1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1130 | CDK5R1 | Zornitza Stark Classified gene: CDK5R1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1130 | CDK5R1 | Zornitza Stark Gene: cdk5r1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1129 | CDK5R1 | Zornitza Stark reviewed gene: CDK5R1: Rating: RED; Mode of pathogenicity: None; Publications: 30733659; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | CDK5RAP2 |
Zornitza Stark gene: CDK5RAP2 was added gene: CDK5RAP2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDK5RAP2 was set to Unknown |
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| Mendeliome v0.0 | CDK5R1 |
Zornitza Stark gene: CDK5R1 was added gene: CDK5R1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDK5R1 was set to Unknown |
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| Mendeliome v0.0 | CDK5 |
Zornitza Stark gene: CDK5 was added gene: CDK5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDK5 was set to Unknown |
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