KIF5C gene related symptoms and diseases
All the information presented here about the KIF5C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KIF5C gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Polymicrogyria | Very Common - Between 80% and 100% cases |
| Fetal akinesia sequence | Very Common - Between 80% and 100% cases |
| Severe intrauterine growth retardation | Very Common - Between 80% and 100% cases |
| Cortical dysplasia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with KIF5C gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Akinesia
- Spastic tetraplegia
- Tetraplegia
- Small hand
- Arthrogryposis multiplex congenita
- Seizures
- Absent speech
- Hypertonia
And 7 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KIF5C gene
Here you will find a list of rare diseases related to the KIF5C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2
Most common symptoms of CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Growth delay
More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2
SOURCES: OMIM
Search interest in KIF5C
Potential gene panels for KIF5C 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.
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.
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.
Cortical dysplasia, complex, with other brain malformations 2 (sequence analysis of KIF5C gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KIF5C gene.
More info about this panel Portugal.
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel
Portugal.
By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
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.
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.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Polymicrogyria Panel
Germany.
By MGZ Medical Genetics Center Polymicrogyria that also includes the following genes: TUBA8 NSDHL NDE1 CHD7 TUBA1A TUBB3 TUBB KIF1BP WDR62 GPSM2
More info about this panel Germany.
Neuronal Migration Disorders Panel Panel
Germany.
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panel Germany.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Germany.
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Germany.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Germany.
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panel Germany.
Neuronal Migration Disorders Panel Panel
Germany.
By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1
More info about this panel Germany.
Epilepsy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panel Estonia.
Brain malformations Panel
Estonia.
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panel Estonia.
KIF5C Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KIF5C gene.
More info about this panel United States.
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