CDK5 gene related symptoms and diseases
All the information presented here about the CDK5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CDK5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Respiratory failure | Very Common - Between 80% and 100% cases |
| Hand clenching | Very Common - Between 80% and 100% cases |
| Centrally nucleated skeletal muscle fibers | Very Common - Between 80% and 100% cases |
| Lissencephaly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CDK5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Lymphedema
- Full cheeks
- Hirsutism
- Arthrogryposis multiplex congenita
- Agenesis of corpus callosum
- Global developmental delay
- Cerebellar hypoplasia
- Areflexia
And 7 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CDK5 gene
Here you will find a list of rare diseases related to the CDK5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7
Description
Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).
Most common symptoms of LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7
- Seizures
- Global developmental delay
- Microcephaly
- Micrognathia
- Abnormal facial shape
More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7
SOURCES: OMIM
Search interest in CDK5
Potential gene panels for CDK5 gene
Cerebral Cortical Malformation Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformation Sequencing Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panel United States.
Lissencephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Lissencephaly Sequencing Panel that also includes the following genes: SNAP29 TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1 CDK5 FKRP
More info about this panel United States.
Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel that also includes the following genes: TUBA8 VLDLR VRK1 CASK TSEN34 CDK5 EXOSC3 TUBA1A TUBB3 RARS2
More info about this panel United States.
Comprehensive Lissencephaly Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Lissencephaly Panel that also includes the following genes: SNAP29 TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 CDK5 FKRP ARX
More info about this panel United States.
Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel that also includes the following genes: TUBA8 VLDLR VRK1 CASK TSEN34 CDK5 EXOSC3 TUBA1A TUBB3 RARS2
More info about this panel United States.
Cerebral Cortical Malformations Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebral Cortical Malformations Deletion/Duplication Panel that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RAB18 ACTG1 B3GNT2 B4GAT1
More info about this panel United States.
Lissencephaly (NGS panel for 12 genes) Panel
Portugal.
By CGC Genetics Lissencephaly (NGS panel for 12 genes) that also includes the following genes: YWHAE NDE1 CDK5 ARX POMT2 TUBA1A DCX KATNB1 LAMB1 PAFAH1B1
More info about this panel Portugal.
Lissencephaly and related disorders NGS test Panel
United States.
By Connective Tissue Gene Tests Lissencephaly and related disorders NGS test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panel United States.
Lissencephaly and related disorders Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests Lissencephaly and related disorders Deletion / Duplication test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panel United States.
Lissencephaly and related disorders Comprehensive test Panel
United States.
By Connective Tissue Gene Tests Lissencephaly and related disorders Comprehensive test that also includes the following genes: SNAP29 TUBA8 TUBB2A TUBG1 VLDLR ACTB RXYLT1 ACTG1 B4GAT1 NDE1
More info about this panel United States.
Lissencephaly core Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests Lissencephaly core Deletion / Duplication test that also includes the following genes: NDE1 CDK5 ARX TUBA1A TMTC3 DCX KATNB1 LAMB1 PAFAH1B1 RELN
More info about this panel United States.
Lissencephaly core Comprehensive test Panel
United States.
By Connective Tissue Gene Tests Lissencephaly core Comprehensive test that also includes the following genes: NDE1 CDK5 ARX TUBA1A TMTC3 DCX KATNB1 LAMB1 PAFAH1B1 RELN
More info about this panel United States.
Lissencephaly core NGS test Panel
United States.
By Connective Tissue Gene Tests Lissencephaly core NGS test that also includes the following genes: NDE1 CDK5 ARX TUBA1A TMTC3 DCX KATNB1 LAMB1 PAFAH1B1 RELN
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
CDK5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CDK5 gene.
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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