KIF14 gene related symptoms and diseases
All the information presented here about the KIF14 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KIF14 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Microcephaly | Very Common - Between 80% and 100% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Agenesis of corpus callosum | Common - Between 50% and 80% cases |
| Cerebellar hypoplasia | Common - Between 50% and 80% cases |
| Renal hypoplasia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with KIF14 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Small cerebral cortex
- Growth delay
- Micrognathia
- Short stature
- Global developmental delay
- Sloping forehead
Not very common - Between 30% and 50% cases
- Arthrogryposis multiplex congenita
- Bifid uvula
And 52 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KIF14 gene
Here you will find a list of rare diseases related to the KIF14. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
Alternate names
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph, premature chromosome condensation with microcephaly and mental retardation, pcc syndrome, true microcephaly, premature chromosome condensation syndrome, microcephalia vera, microcephaly vera
Description
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.
Most common symptoms of AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
LETHAL FETAL CEREBRORENOGENITOURINARY AGENESIS/HYPOPLASIA SYNDROME
Description
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
Most common symptoms of LETHAL FETAL CEREBRORENOGENITOURINARY AGENESIS/HYPOPLASIA SYNDROME
- Microcephaly
- Growth delay
- Micrognathia
- Low-set ears
- Wide nasal bridge
More info about LETHAL FETAL CEREBRORENOGENITOURINARY AGENESIS/HYPOPLASIA SYNDROME
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20
Most common symptoms of MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
More info about MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20
SOURCES: OMIM
Search interest in KIF14
Potential gene panels for KIF14 gene
Joubert/Meckel-Gruber syndrome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Joubert/Meckel-Gruber syndrome Panel that also includes the following genes: CEP41 TMEM237 KIF14 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel United States.
Meckel Gruber Syndrome Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Meckel Gruber Syndrome Sequencing Panel that also includes the following genes: KIF14 B9D1 TCTN3 TMEM216 TCTN2 CSPP1 TMEM107 TMEM67 B9D2 CEP290
More info about this panel United States.
Renal Cystic Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6
More info about this panel United States.
Meckel Gruber Syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Meckel Gruber Syndrome Deletion/Duplication Panel that also includes the following genes: KIF14 B9D1 TCTN3 TMEM216 TCTN2 CSPP1 TMEM107 TMEM67 B9D2 CEP290
More info about this panel United States.
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel that also includes the following genes: CEP41 TMEM237 KIF14 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel United States.
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Ciliopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237
More info about this panel United States.
Joubert syndrome and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Joubert syndrome and related disorders NGS panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Joubert syndrome and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Joubert syndrome and related disorders Deletion / Duplication panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Joubert syndrome and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Joubert syndrome and related disorders Comprehensive panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
KIF14 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KIF14 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Ciliopathy Panel Panel
Finland.
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panel Finland.
Meckel Syndrome Panel Panel
Finland.
By Blueprint Genetics Meckel Syndrome Panel that also includes the following genes: KIF14 B9D1 TMEM216 TCTN2 TMEM107 TMEM67 B9D2 CEP290 RPGRIP1L CC2D2A
More info about this panel Finland.
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