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.

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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

SOURCES: ORPHANET MESH OMIM

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

SOURCES: OMIM ORPHANET


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

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

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

KIAA1279 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the KIF1BP gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Hirschsprung disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KIF1BP gene.

More info about this panel

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

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

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

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

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

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

KIAA1279 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KIF1BP gene.

More info about this panel

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

KIF1BP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KIF1BP gene.

More info about this panel

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

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

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

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

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

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


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