EXT2 gene related symptoms and diseases

All the information presented here about the EXT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EXT2 gene

Symptoms // Phenotype % Cases
Exostoses Common - Between 50% and 80% cases
Multiple exostoses Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Genu valgum Uncommon - Between 30% and 50% cases
Chondrosarcoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with EXT2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Seizures
  • Global developmental delay
  • Strabismus
  • Pelvic bone exostoses
  • Hypertension
  • Scoliosis
  • Failure to thrive
  • Rarely - Less than 30% cases

  • Self-injurious behavior

And 106 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to EXT2 gene

Here you will find a list of rare diseases related to the EXT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MULTIPLE OSTEOCHONDROMAS


Alternate names

MULTIPLE OSTEOCHONDROMAS Is also known as multiple cartilaginous exostoses, bessel-hagen disease

Description

Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.

Most common symptoms of MULTIPLE OSTEOCHONDROMAS

  • Short stature
  • Scoliosis
  • Neoplasm
  • Failure to thrive
  • Muscle weakness


More info about MULTIPLE OSTEOCHONDROMAS

SOURCES: ORPHANET

EXOSTOSES, MULTIPLE, TYPE II


Alternate names

EXOSTOSES, MULTIPLE, TYPE II Is also known as ext2

Description

Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones.

Most common symptoms of EXOSTOSES, MULTIPLE, TYPE II

  • Short stature
  • Genu valgum
  • Short metacarpal
  • Coxa vara
  • Exostoses


More info about EXOSTOSES, MULTIPLE, TYPE II

SOURCES: OMIM

POTOCKI-SHAFFER SYNDROME


Alternate names

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome, defect11 syndrome, pss, chromosome 11p11.2 deletion syndrome, 11p11.2 deletion, p11pds

Description

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

Most common symptoms of POTOCKI-SHAFFER SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


More info about POTOCKI-SHAFFER SYNDROME

SOURCES: MESH OMIM ORPHANET

SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME


Alternate names

SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME Is also known as ssm syndrome

Description

Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.

Most common symptoms of SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


More info about SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for EXT2 gene

Hereditary Multiple Osteochrondomas-HMO Type 2 Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the EXT2 gene.

More info about this panel

EXT2 Sequencing 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 EXT2 gene.

More info about this panel

EXT2 Deletion/duplication analysis 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 EXT2 gene.

More info about this panel

EXT2 Panel

Belgium.

By Department of Medical Genetics - Wuyts Lab Antwerp University Hospital

This panel specifically test the EXT2 gene.

More info about this panel

EXT2. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the EXT2 gene.

More info about this panel

EXT2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the EXT2 gene.

More info about this panel

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

Exostoses (sequence analysis of EXT2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EXT2 gene.

More info about this panel

Exostoses, multiple (deletion/duplication analysis of EXT1 and EXT2 genes) Panel

Portugal.

By CGC Genetics Exostoses, multiple (deletion/duplication analysis of EXT1 and EXT2 genes) that also includes the following genes: EXT1 EXT2

More info about this panel

Exostoses multiple (sequence analysis of EXT1 and EXT2 genes) Panel

Portugal.

By CGC Genetics Exostoses multiple (sequence analysis of EXT1 and EXT2 genes) that also includes the following genes: EXT1 EXT2

More info about this panel

OncoRisk (NGS panel for 48 genes) Panel

Portugal.

By CGC Genetics OncoRisk (NGS panel for 48 genes) that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL

More info about this panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Hereditary Multiple Osteochondromas (HMO) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Multiple Osteochondromas (HMO) Sequencing Panel with CNV Detection that also includes the following genes: EXT1 EXT2

More info about this panel

Hereditary Multiple Osteochondromas (HMO) via EXT2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the EXT2 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Multiple exostoses NGS panel Panel

United States.

By Connective Tissue Gene Tests Multiple exostoses NGS panel that also includes the following genes: EXT1 EXT2

More info about this panel

Multiple exostoses Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Multiple exostoses Deletion / Duplication panel that also includes the following genes: EXT1 EXT2

More info about this panel

Multiple exostoses Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Multiple exostoses Comprehensive panel that also includes the following genes: EXT1 EXT2

More info about this panel

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Exostoses, multiple, type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the EXT2 gene.

More info about this panel

Single gene testing EXT2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the EXT2 gene.

More info about this panel

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

Hereditary multiple osteochondromas, EXT2 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the EXT2 gene.

More info about this panel

Invitae Hereditary Multiple Osteochondromas Panel Panel

United States.

By Invitae Invitae Hereditary Multiple Osteochondromas Panel that also includes the following genes: EXT1 EXT2

More info about this panel

Osteochondromatosis type I and II: EXT1 and EXT2 genes sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Osteochondromatosis type I and II: EXT1 and EXT2 genes sequence analysis that also includes the following genes: EXT1 EXT2

More info about this panel

Osteochondromatosis type II: EXT2 gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the EXT2 gene.

More info about this panel

Osteochondromatosis type II: EXT2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the EXT2 gene.

More info about this panel

Congenital disorder of O-linked glycosylation (CDG) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of O-linked glycosylation (CDG) that also includes the following genes: XYLT1 B4GAT1 HES7 CHSY1 B3GALT6 FKRP POMGNT1 CHST3 POMT2 B3GLCT

More info about this panel

Congenital Disorders of Glycosylation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP

More info about this panel

Disproportionate Short Stature: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Disproportionate Short Stature: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1

More info about this panel

Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP

More info about this panel

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

Hereditary-Multiple-Osteochondromas Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary-Multiple-Osteochondromas that also includes the following genes: EXT1 EXT2

More info about this panel

EXT2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EXT2 gene.

More info about this panel

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Hemato-oncology chromosomal microarray Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Exostosis and Related Disorders Panel Panel

Finland.

By Blueprint Genetics Exostosis and Related Disorders Panel that also includes the following genes: EXT1 EXT2 PTPN11

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Multiple cartilaginous exostoses type 2 Panel

Spain.

By Bioarray

This panel specifically test the EXT2 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

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

OSTEOCHONDROMA Panel

Spain.

By Laboratorio de Genetica Clinica SL OSTEOCHONDROMA that also includes the following genes: EXT1 EXT2

More info about this panel

MULTIPLE EXOSTOSES (MULTIPLE OSTEOCHONDROMAS) Panel

Spain.

By Laboratorio de Genetica Clinica SL MULTIPLE EXOSTOSES (MULTIPLE OSTEOCHONDROMAS) that also includes the following genes: EXT1 EXT2

More info about this panel

Osteochondromatosis Type 2 , Sequencing EXT2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EXT2 gene.

More info about this panel

Osteochondromatosis Type 2 , Deletions-Duplications (MLPA) EXT2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EXT2 gene.

More info about this panel

Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Spain.

By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

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

Hereditary Multiple Osteochondromas: gene deletion/duplication panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Multiple Osteochondromas: gene deletion/duplication panel that also includes the following genes: EXT1 EXT2

More info about this panel

Hereditary Multiple Osteochondromas: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Multiple Osteochondromas: gene sequencing panel that also includes the following genes: EXT1 EXT2

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

CEN4GEN Breast cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Breast cancer: Extended gene sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 TRAF5 WEE1 PCGF2 KMT2C ITCH CBFB MUC16

More info about this panel


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