KNL1 gene related symptoms and diseases
All the information presented here about the KNL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KNL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Delayed speech and language development | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Intellectual disability, moderate | Very Common - Between 80% and 100% cases |
| Ventriculomegaly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with KNL1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Sloping forehead
- Micrognathia
- Short stature
- Microcephaly
Not very common - Between 30% and 50% cases
- Mild microcephaly
- Abnormal cortical bone morphology
- Bird-like facies
- Hypoplasia of the frontal lobes
And 28 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KNL1 gene
Here you will find a list of rare diseases related to the KNL1. 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
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4
Description
Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).
Most common symptoms of MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Hypertelorism
More info about MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4
Search interest in KNL1
Potential gene panels for KNL1 gene
Autosomal Recessive Primary Microcephaly Tier 2 panel Panel
United States.
By Genetic Services Laboratory University of Chicago Autosomal Recessive Primary Microcephaly Tier 2 panel that also includes the following genes: STIL SLC25A19 ZNF335 ARFGEF2 STAMBP CENPJ NDE1 CDK6 CENPE CENPF
More info about this panel United States.
Microcephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT
More info about this panel United States.
Microcephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panel United States.
Microcephaly 4, primary, AR (sequence analysis of CASC5 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KNL1 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.
Primary Microcephaly, Autosomal Recessive, Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Primary Microcephaly, Autosomal Recessive, Sequencing Panel with CNV Detection that also includes the following genes: STIL CENPJ CDK5RAP2 ASPM CIT KNL1 WDR62 CEP135 CEP152 MCPH1
More info about this panel United States.
Microcephaly Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Microcephaly that also includes the following genes: STIL ZNF335 CENPJ CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135 CEP152
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Microcephaly, autosomal recessive type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KNL1 gene.
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.
Microcephaly Panel
Estonia.
By Asper Biogene Asper Biogene LLC Microcephaly that also includes the following genes: STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2 ASPM
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.
Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders that also includes the following genes: STIL CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135 CEP152
More info about this panel Spain.
Neurology: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panel United States.
CASC5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KNL1 gene.
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
Microcephaly primary autosomal recessive Panel
Spain.
By Laboratorio de Genetica Clinica SL Microcephaly primary autosomal recessive that also includes the following genes: STIL CENPJ CDK6 CDK5RAP2 ASPM CIT KNL1 WDR62 SASS6 CEP63
More info about this panel Spain.
PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY) Panel
Spain.
By Laboratorio de Genetica Clinica SL PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY) that also includes the following genes: STIL CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 SASS6 CEP63 CEP135
More info about this panel Spain.
Autosomal Recessive Primary Microcephaly , Panel Massive Sequencing (NGS) 8 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Recessive Primary Microcephaly , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 CEP135 MCPH1
More info about this panel Spain.
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel that also includes the following genes: STIL NIN CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135
More info about this panel Canada.
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