KIF1BP gene related symptoms and diseases
All the information presented here about the KIF1BP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KIF1BP gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Low-set ears | Very Common - Between 80% and 100% cases |
| Blue sclerae | Very Common - Between 80% and 100% cases |
| Craniosynostosis | Very Common - Between 80% and 100% cases |
| Protruding ear | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with KIF1BP gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Camptodactyly
- Telecanthus
- Constipation
- Ventriculomegaly
- Talipes equinovarus
- Downslanted palpebral fissures
- Hypoplasia of the maxilla
- Ptosis
And 155 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KIF1BP gene
Here you will find a list of rare diseases related to the KIF1BP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
Alternate names
GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome, goshs, megacolon-microcephaly syndrome
Description
Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.
Most common symptoms of GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
SHPRINTZEN-GOLDBERG SYNDROME
Alternate names
SHPRINTZEN-GOLDBERG SYNDROME Is also known as sgs, marfanoid craniosynostosis syndrome, craniosynostosis with arachnodactyly and abdominal hernias, marfanoid disorder with craniosynostosis, type i
Description
Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
Most common symptoms of SHPRINTZEN-GOLDBERG SYNDROME
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Scoliosis
More info about SHPRINTZEN-GOLDBERG SYNDROME
Search interest in KIF1BP
Potential gene panels for KIF1BP 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.
Comprehensive Brain Malformation Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel United States.
KIAA1279 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the KIF1BP gene.
More info about this panel United States.
Polymicrogyria Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Polymicrogyria Deletion/Duplication Panel that also includes the following genes: TUBA8 RAB18 CCND2 TBC1D20 RAB3GAP1 RAB3GAP2 NDE1 RTTN TUBA1A TUBB3
More info about this panel United States.
KIAA1279 deletion/duplication analysis Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the KIF1BP gene.
More info about this panel United States.
Cerebral Cortical Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Cerebral Cortical Deletion/Duplication Panel that also includes the following genes: TUBA8 VLDLR ACTB RAB18 ACTG1 RAB3GAP1 RAB3GAP2 FKRP ARX RTTN
More info about this panel United States.
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.
Polymicrogyria Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Polymicrogyria Sequencing Panel that also includes the following genes: TUBA8 RAB18 CCND2 TBC1D20 RAB3GAP1 RAB3GAP2 NDE1 RTTN TUBA1A TUBB3
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.
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.
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.
Goldberg-Shprintzen megacolon syndrome (sequence analysis of KIAA1279 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KIF1BP gene.
More info about this panel Portugal.
Goldberg-Shprintzen Megacolon Syndrome via KIAA1279 (KIF1BP) Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the KIF1BP gene.
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.
Goldberg-Shprintzen megacolon syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KIF1BP gene.
More info about this panel Germany.
Hirschsprung disease Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KIF1BP gene.
More info about this panel Germany.
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.
Brain Malformations: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Sequencing Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panel United States.
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.
Brain Malformations: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Deletion/Duplication Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Polymicrogyria NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Polymicrogyria NGS Panel that also includes the following genes: TUBA8 TUBA1A TUBB3 KIF1BP SRPX2 TUBB2B ADGRG1
More info about this panel United States.
KIAA1279 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KIF1BP gene.
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.
KIF1BP Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KIF1BP gene.
More info about this panel United States.
Hirschsprung Disease Panel Panel
Finland.
By Blueprint Genetics Hirschsprung Disease Panel that also includes the following genes: RMRP BDNF SOX10 ZEB2 KIF1BP EDN3 EDNRB CELSR3 L1CAM MITF
More info about this panel Finland.
Polymicrogyria Panel Panel
Finland.
By Blueprint Genetics Polymicrogyria Panel that also includes the following genes: TUBA8 TUBB2A NSDHL RAB18 NDE1 TUBA1A TUBB3 KIF1BP WDR62 GPSM2
More info about this panel Finland.
Neuronal Migration Disorder Panel Panel
Finland.
By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panel Finland.
HIRSCHSPRUNG´S DISEASE: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HIRSCHSPRUNG´S DISEASE: NGS PANEL that also includes the following genes: SEMA3A SEMA3C SEMA3D SOX10 ZEB2 KIF1BP ECE1 EDN3 EDNRB GDNF
More info about this panel Spain.
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel
Spain.
By Reference Laboratory Genetics Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes that also includes the following genes: TUBA8 VLDLR ACTB ACTG1 CASK ARFGEF2 NDE1 FKRP ARX ASPM
More info about this panel Spain.
Syndromic Hirschsprung Disease: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: BDNF SDCCAG8 SOX10 ARL6 ZEB2 TRIM32 BBS7 TTC8 KIF1BP BBS10
More info about this panel Canada.
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