BCR gene related symptoms and diseases
All the information presented here about the BCR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to BCR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Common - Between 50% and 80% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Aortic aneurysm | Uncommon - Between 30% and 50% cases |
| High, narrow palate | Uncommon - Between 30% and 50% cases |
| Highly arched eyebrow | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with BCR gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Premature birth
- Underdeveloped nasal alae
- Choanal atresia
- Bowing of the long bones
- Recurrent urinary tract infections
- Pointed chin
- Coxa valga
- Oculomotor apraxia
And 101 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to BCR gene
Here you will find a list of rare diseases related to the BCR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DISTAL 22Q11.2 MICRODELETION SYNDROME
Alternate names
DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2), distal monosomy 22q11.2
Description
Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.
Most common symptoms of DISTAL 22Q11.2 MICRODELETION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about DISTAL 22Q11.2 MICRODELETION SYNDROME
SOURCES: ORPHANET
CAYLER CARDIOFACIAL SYNDROME
Alternate names
CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of, facial paresis, partial, unilateral, asymmetric crying facies, acf
Most common symptoms of CAYLER CARDIOFACIAL SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about CAYLER CARDIOFACIAL SYNDROME
SOURCES: OMIM
CHRONIC MYELOID LEUKEMIA
Alternate names
CHRONIC MYELOID LEUKEMIA Is also known as chronic granulocytic leukemia, cml, leukemia, chronic myelogenous, chronic myelogenous leukemia
Description
Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.
Most common symptoms of CHRONIC MYELOID LEUKEMIA
- Neoplasm
- Fever
- Fatigue
- Splenomegaly
- Thrombocytopenia
More info about CHRONIC MYELOID LEUKEMIA
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).
Most common symptoms of LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL
- Neoplasm
- Pain
- Fever
- Fatigue
- Arthralgia
More info about LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL
PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA
Alternate names
PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA Is also known as b-all, precursor b-cell acute lymphocytic leukemia, precursor b-cell acute lymphocytic leukemia/lymphoma, precursor b-cell acute lymphoblastic leukemia/lymphoma
More info about PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA
SOURCES: ORPHANET
PRECURSOR T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA
Alternate names
PRECURSOR T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA Is also known as precursor t-cell acute lymphoblastic leukemia/lymphoma, t-all, precursor t-cell acute lymphocytic leukemia, precursor t-cell acute lymphocytic leukemia/lymphoma
More info about PRECURSOR T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA
SOURCES: ORPHANET
Search interest in BCR
Potential gene panels for BCR gene
BCR/ABL p210 Quantitative Test Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the BCR gene.
More info about this panel United States.
BCR/ABL Qualitative Test Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the BCR gene.
More info about this panel United States.
BCR/ABL (p210) quantification Panel
Portugal.
By CGC Genetics BCR/ABL (p210) quantification that also includes the following genes: BCR ABL1
More info about this panel Portugal.
RT-sequencing BCR/ABL Panel
Portugal.
By CGC Genetics
This panel specifically test the BCR gene.
More info about this panel Portugal.
RT-PCR t(9;22)(BCR/ABL) Panel
Portugal.
By CGC Genetics RT-PCR t(9;22)(BCR/ABL) that also includes the following genes: BCR ABL1
More info about this panel Portugal.
BCR/ABL (P190) quantification Panel
Portugal.
By CGC Genetics BCR/ABL (P190) quantification that also includes the following genes: BCR ABL1
More info about this panel Portugal.
Detection by FISH of t(9;22) BCR/ABL Panel
Portugal.
By CGC Genetics Detection by FISH of t(9;22) BCR/ABL that also includes the following genes: BCR ABL1
More info about this panel Portugal.
Fluorescent in situ Hybridization - Hematopathology Panel
United States.
By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA Fluorescent in situ Hybridization - Hematopathology that also includes the following genes: BCL6 BCR RUNX1 ABI1 TCF3 TP53 DLEU1 CRLF2 RUNX1T1 CBFB
More info about this panel United States.
BCR-ABL Kinase Mutation Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti BCR-ABL Kinase Mutation Analysis that also includes the following genes: BCR ABL1
More info about this panel United States.
BCR-ABL Quantitative Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti BCR-ABL Quantitative Analysis that also includes the following genes: BCR ABL1
More info about this panel United States.
BCR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BCR gene.
More info about this panel United States.
Onco microarray for MDS/AML Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1
More info about this panel United States.
BCR/ABL Qualitative Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. BCR/ABL Qualitative that also includes the following genes: BCR ABL1
More info about this panel United States.
BCR/ABL Quantitative Major (p210) & Minor (p190) Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. BCR/ABL Quantitative Major (p210) & Minor (p190) that also includes the following genes: BCR ABL1
More info about this panel United States.
ABL Kinase Domain Mutation Analysis Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. ABL Kinase Domain Mutation Analysis that also includes the following genes: BCR ABL1
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
Providence Personalized Medicine Panel - Solid Tumor Panel
United States.
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Leukemia (Philadelphia chromosome/translocation): BCR-ABL Rearrangement detection Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Leukemia (Philadelphia chromosome/translocation): BCR-ABL Rearrangement detection that also includes the following genes: BCR ABL1
More info about this panel Canada.
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