ABL1 gene related symptoms and diseases
All the information presented here about the ABL1 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 ABL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Rare - less than 30% cases |
| Arachnodactyly | Rare - less than 30% cases |
| Pectus excavatum | Rare - less than 30% cases |
| Abnormal heart morphology | Rare - less than 30% cases |
| Constipation | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with ABL1 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Deeply set eye
- Joint laxity
- Camptodactyly
- Abnormal cardiac septum morphology
- Broad forehead
- Carious teeth
- Anal atresia
- Intestinal malrotation
And 40 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ABL1 gene
Here you will find a list of rare diseases related to the ABL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
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
LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL
Alternate names
LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL Is also known as lymphomatous all
Most common symptoms of LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL
- Lymphoma
- T-cell acute lymphoblastic leukemias
More info about LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM
Description
Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).
Most common symptoms of CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM
- Scoliosis
- Failure to thrive
- Abnormal facial shape
- Flexion contracture
- Intrauterine growth retardation
More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM
SOURCES: OMIM
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 ABL1
Potential gene panels for ABL1 gene
BCR-ABL1 Kinase Domain Mutation Analysis Panel
United States.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories
This panel specifically test the ABL1 gene.
More info about this panel United States.
MyeloidDx by NGS Panel
United States.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panel United States.
MyeloidDx by NGS Panel
United States.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panel United States.
CHOP Solid Tumors Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Solid Tumors Panel that also includes the following genes: CDK12 ABL1
More info about this panel United States.
CHOP Heme Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the ABL1 gene.
More info about this panel United States.
CHOP Cancer Fusion Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Cancer Fusion Panel that also includes the following genes: DUSP22 ABL1 ABL2
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 ABL1 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.
BCR-ABL1 kinase domain sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the ABL1 gene.
More info about this panel United States.
Myeloid Tumor Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Myeloid Tumor Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panel Germany.
Cancer Hotspot Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A
More info about this panel Germany.
Solid Tumor Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A
More info about this panel Germany.
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.
NGS HemeOnc Panel Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti NGS HemeOnc Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 TP53 U2AF1 WT1 CBL SETBP1 PHF6 ASXL1
More info about this panel United States.
ABL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ABL1 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.
Marfan Syndrome Panel Panel
Finland.
By Blueprint Genetics Marfan Syndrome Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ADAMTS10 SLC2A10 CBS
More info about this panel Finland.
Congenital Structural Heart Disease Panel Panel
Finland.
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panel Finland.
Aorta Panel Panel
Finland.
By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS
More info about this panel Finland.
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.
Focus::Myeloid™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panel United States.
Focus::Myeloid™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1
More info about this panel United States.
Focus::MPN™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MPN™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 TP53 U2AF1 CALR CBL SETBP1 ASXL1 CEBPA
More info about this panel United States.
Focus::AML™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::AML™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TP53 U2AF1 KDM6A WT1 CALR
More info about this panel United States.
Focus::Renal® NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Renal® NGS Panel that also includes the following genes: RHEB ROS1 BRAF ARID1A KDM5C SMO TP53 TSC1 TSC2 VHL
More info about this panel United States.
Solid Tumor Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C
More info about this panel United States.
Hematopoietic Disorders Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TERT TP53 U2AF1 KDM6A NSD1
More info about this panel United States.
Gynecologic Tumors Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Gynecologic Tumors Gene Set that also includes the following genes: FOXL2 BRAF BRCA1 BRCA2 SMO STK11 MED12 TP53 VHL CCND1
More info about this panel United States.
FoundationOne® Panel
United States.
By Foundation Medicine, Inc. FoundationOne® that also includes the following genes: CBL ABL1
More info about this panel United States.
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
Comprehensive Panel for Individualized Cancer Threatment Panel
Greece.
By GeneKor MSA Comprehensive Panel for Individualized Cancer Threatment that also includes the following genes: ROS1 BRAF SMARCB1 SMO SRC HNF1A TP53 VHL FBXW7 CDH1
More info about this panel Greece.
Cancer Hotspot Analysis Panel
United States.
By Advanced Technology Laboratory Spectrum Health Cancer Hotspot Analysis that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panel United States.
Circulo Hematological Panel
United States.
By Circulogene Theranostics
This panel specifically test the ABL1 gene.
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
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.
OmniSeq Comprehensive Panel
United States.
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panel United States.
LEUKEMIA, CHRONIC MYELOID Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ABL1 gene.
More info about this panel Spain.
Solid Tumor Targeted Mutation and Fusion Panel Panel
United States.
By Providence Regional Laboratories Providence Health and Services Solid Tumor Targeted Mutation and Fusion Panel that also includes the following genes: ROS1 BRAF SMO CCND1 CDK4 CDK6 CTNNB1 DDR2 EGFR ERBB2
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.
CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel that also includes the following genes: RUNX1 BRAF TP53 ASXL1 CEBPA TET2 DNMT3A FLT3 ALK IDH1
More info about this panel Canada.
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panel Canada.
PrimBio Cancer HotSpot Panel Panel
United States.
By PrimBio Research Institute PrimBio Research Institute PrimBio Cancer HotSpot Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panel United States.
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