GNB1 gene related symptoms and diseases

All the information presented here about the GNB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GNB1 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Polymicrogyria Uncommon - Between 30% and 50% cases
Acute lymphoblastic leukemia Uncommon - Between 30% and 50% cases
Bruising susceptibility Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with GNB1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Arthralgia
  • Fatigue
  • Fever
  • Pain
  • Neoplasm
  • Impaired smooth pursuit
  • Limb hypertonia
  • Cerebral visual impairment

And 19 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GNB1 gene

Here you will find a list of rare diseases related to the GNB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42


Description

Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42

SOURCES: OMIM

LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL


Description

Acute lymphoblastic leukemia (ALL), also known as acute lymphocytic leukemia, is a subtype of acute leukemia, a cancer of the white blood cells. Somatically acquired mutations in several genes have been identified in ALL lymphoblasts, cells in the early stages of differentiation. Germline variation in certain genes may also predispose to susceptibility to ALL (Trevino et al., 2009). Genetic Heterogeneity of Acute Lymphoblastic LeukemiaA susceptibility locus for acute lymphoblastic leukemia (ALL1) has been mapped to chromosome 10q21. See also ALL2 (OMIM ), which has been mapped to chromosome 7p12.2; and ALL3 (OMIM ), which is caused by mutation in the PAX5 gene (OMIM ) on chromosome 9p.

Most common symptoms of LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL

  • Neoplasm
  • Pain
  • Fever
  • Fatigue
  • Arthralgia


More info about LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL

SOURCES: OMIM ORPHANET

GLOBAL DEVELOPMENTAL DELAY-NEURO-OPHTHALMOLOGICAL ABNORMALITIES-SEIZURES-INTELLECTUAL DISABILITY SYNDROME



More info about GLOBAL DEVELOPMENTAL DELAY-NEURO-OPHTHALMOLOGICAL ABNORMALITIES-SEIZURES-INTELLECTUAL DISABILITY SYNDROME

SOURCES: ORPHANET


Potential gene panels for GNB1 gene

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel

GNB1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GNB1 gene.

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

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

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


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