KANSL1 gene related symptoms and diseases
All the information presented here about the KANSL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KANSL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Hip dysplasia | Uncommon - Between 30% and 50% cases |
| Bicuspid aortic valve | Uncommon - Between 30% and 50% cases |
| Sacral dimple | Uncommon - Between 30% and 50% cases |
| Widely spaced teeth | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KANSL1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Narrow palpebral fissure
- Joint dislocation
- Narrow palate
- Heterotopia
- Abnormality of the genital system
- Open mouth
- Status epilepticus
- Hypotelorism
And 112 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KANSL1 gene
Here you will find a list of rare diseases related to the KANSL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
17Q21.31 MICRODELETION SYNDROME
Alternate names
17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31), monosomy 17q21.31, chromosome 17q21.31 deletion syndrome, microdeletion 17q21.31 syndrome
Description
Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).
Most common symptoms of 17Q21.31 MICRODELETION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about 17Q21.31 MICRODELETION SYNDROME
KOOLEN-DE VRIES SYNDROME DUE TO A POINT MUTATION
Search interest in KANSL1
Potential gene panels for KANSL1 gene
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders that also includes the following genes: SYNGAP1 TBX1 TSC1 TSC2 SETBP1 PANK2 ADGRV1 ATP6V0A2 MAGI2 VPS13A
More info about this panel United States.
NGS Epilepsy/Seizure Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Comprehensive Epilepsy Panel Panel
United States.
By GeneDx Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 SYN1
More info about this panel United States.
Infantile Epilepsy Panel Panel
United States.
By GeneDx Infantile Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 TCF4
More info about this panel United States.
Childhood-Onset Epilepsy Panel Panel
United States.
By GeneDx Childhood-Onset Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 TCF4 UBE3A CNTNAP2
More info about this panel United States.
KANSL1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the KANSL1 gene.
More info about this panel Spain.
KANSL1-Related Intellectual Disability Syndrome Panel
Portugal.
By CGC Genetics
This panel specifically test the KANSL1 gene.
More info about this panel Portugal.
Koolen-De Vries syndrome (sequence analysis of KANSL1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KANSL1 gene.
More info about this panel Portugal.
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
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.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Koolen syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KANSL1 gene.
More info about this panel Germany.
Koolen syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KANSL1 gene.
More info about this panel Germany.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Congenital heart diseases Panel Panel
Spain.
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panel Spain.
Invitae Epilepsy Panel Panel
United States.
By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1
More info about this panel United States.
Invitae Rett and Angelman Syndromes and Related Disorders Panel Panel
United States.
By Invitae Invitae Rett and Angelman Syndromes and Related Disorders Panel that also includes the following genes: SCN8A SLC9A6 CDKL5 STXBP1 TCF4 UBE3A CNTNAP2 ZEB2 NGLY1 MBD5
More info about this panel United States.
KANSL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KANSL1 gene.
More info about this panel United States.
Idiopathic Generalized Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Idiopathic Generalized Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC9A6 SMC1A KDM5C CDKL5
More info about this panel United States.
Early-Onset Epileptic Encephalopathy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Microcephaly and Pontocerebellar Hypoplasia Panel Panel
Finland.
By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ
More info about this panel Finland.
Koolen-De Vries syndrome Panel
Spain.
By Bioarray
This panel specifically test the KANSL1 gene.
More info about this panel Spain.
KOOLEN-DE VRIES SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the KANSL1 gene.
More info about this panel Spain.
Koolen- De Vries Syndrome , Sequencing KANSL1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the KANSL1 gene.
More info about this panel Spain.
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel
Spain.
By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP
More info about this panel Spain.
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SMARCA4 SMARCB1 ARID1A SYNGAP1 TRIO ZBTB18 CACNG2 DEAF1 SETBP1 ADNP
More info about this panel Spain.
KANSL1-Related Intellectual Disability Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the KANSL1 gene.
More info about this panel Canada.
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