IGBP1 gene related symptoms and diseases

All the information presented here about the IGBP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IGBP1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Pectus excavatum Very Common - Between 80% and 100% cases
Broad neck Very Common - Between 80% and 100% cases
Cupped ear Very Common - Between 80% and 100% cases
Choanal atresia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IGBP1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Iris coloboma
  • Prominent nasal bridge
  • Coloboma
  • Abnormality of the pinna
  • Retrognathia
  • High forehead
  • Agenesis of corpus callosum
  • Patent ductus arteriosus

And 14 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to IGBP1 gene

Here you will find a list of rare diseases related to the IGBP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME


Alternate names

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28, graham-cox syndrome, mrxs28

Description

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

Most common symptoms of CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

SOURCES: ORPHANET MESH OMIM


Potential gene panels for IGBP1 gene

NGS XLID Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-linked Intellectual Disabilities Sequencing Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

X-linked Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 SYN1

More info about this panel

Corpus callosum agenesis of with mental retardation, ocular coloboma and micrognathia (sequence analysis of IGBP1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IGBP1 gene.

More info about this panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS

More info about this panel

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

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

X-Linked Mental Retardation Panel

Germany.

By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3

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

Corpus callosum agenesis of with mental retardation ocular coloboma and micrognathia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IGBP1 gene.

More info about this panel

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

Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia,IGBP1 Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the IGBP1 gene.

More info about this panel

XLMR with Agenesis of the Corpus Callosum: IGBP1 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the IGBP1 gene.

More info about this panel

XLMR with Agenesis of the Corpus Callosum: IGBP1 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the IGBP1 gene.

More info about this panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

XLID NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

IGBP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IGBP1 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

X-linked Intellectual Disability Panel Panel

Finland.

By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SMG6 OPN1LW

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more