OBSL1 gene related symptoms and diseases
All the information presented here about the OBSL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to OBSL1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short neck | Very Common - Between 80% and 100% cases |
| Frontal bossing | Very Common - Between 80% and 100% cases |
| Long philtrum | Very Common - Between 80% and 100% cases |
| Protruding ear | Very Common - Between 80% and 100% cases |
| Malar flattening | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with OBSL1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Anteverted nares
- Pointed chin
- Midface retrusion
- Slender long bone
- Dolichocephaly
- Thick vermilion border
- Short stature
- Scapular winging
And 68 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to OBSL1 gene
Here you will find a list of rare diseases related to the OBSL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
3M SYNDROME
Alternate names
3M SYNDROME Is also known as le merrer syndrome, 3-m syndrome, 3m syndrome, gloomy face syndrome, yakut short stature syndrome, dolichospondylic dysplasia
Description
3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.
Most common symptoms of 3M SYNDROME
- Intellectual disability
- Short stature
- Generalized hypotonia
- Scoliosis
- Growth delay
More info about 3M SYNDROME
THREE M SYNDROME 2; 3M2
Alternate names
THREE M SYNDROME 2; 3M2 Is also known as 3m syndrome 2
Most common symptoms of THREE M SYNDROME 2; 3M2
- Short stature
- Frontal bossing
- Anteverted nares
- Short neck
- Long philtrum
More info about THREE M SYNDROME 2; 3M2
Search interest in OBSL1
Potential gene panels for OBSL1 gene
Comprehensive Primordial Dwarfism Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Primordial Dwarfism Panel that also includes the following genes: PLK4 XRCC4 CRIPT PCNT ORC6 CENPJ CDC6 GMNN RTTN CDK5RAP2
More info about this panel United States.
OBSL1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the OBSL1 gene.
More info about this panel Spain.
3-M syndrome 2 (sequence analysis of OBSL1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the OBSL1 gene.
More info about this panel Portugal.
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 United States.
Three M syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Three M syndrome NGS panel that also includes the following genes: CUL7 CCDC8 OBSL1
More info about this panel United States.
Three M syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Three M syndrome Deletion / Duplication panel that also includes the following genes: CUL7 CCDC8 OBSL1
More info about this panel United States.
Three M syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Three M syndrome Comprehensive panel that also includes the following genes: CUL7 CCDC8 OBSL1
More info about this panel United States.
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 Germany.
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 Germany.
Three M syndrome type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the OBSL1 gene.
More info about this panel Germany.
Selected Genetic Syndromes with skeletal involvement Panel Panel
Germany.
By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6
More info about this panel Germany.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
Spain.
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panel Spain.
Cardiomyopathies Panel Panel
Spain.
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panel Spain.
Hypertrophic Cardiomyopathy Extended Panel Panel
Spain.
By Health in Code Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: MRPL3 RYR2 SLC22A5 BRAF SLC25A4 SOS1 SURF1 TAZ TCAP KLF10
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Arrhythmia General Panel Panel
Spain.
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panel Spain.
Hypertrophic cardiomyopathy extended panel Panel
Spain.
By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ
More info about this panel Spain.
Cardiomyopathies General Panel Panel
Spain.
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panel Spain.
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 United States.
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 United States.
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 United States.
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 United States.
OBSL1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the OBSL1 gene.
More info about this panel United States.
Comprehensive Short Stature Syndrome Panel Panel
Finland.
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panel Finland.
3-M Syndrome / Primordial Dwarfism Panel Panel
Finland.
By Blueprint Genetics 3-M Syndrome / Primordial Dwarfism Panel that also includes the following genes: BCS1L XRCC4 PCNT SRCAP ORC6 CENPJ CDC45 CDC6 RTTN CUL7
More info about this panel Finland.
Skeletal Dysplasias Core Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panel Finland.
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 Finland.
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 Finland.
THREE M SYNDROME 2; 3M2 Panel
Spain.
By Bioarray
This panel specifically test the OBSL1 gene.
More info about this panel Spain.
3-M SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL 3-M SYNDROME that also includes the following genes: CUL7 OBSL1
More info about this panel Spain.
3M Syndrome Type 2 , Sequencing OBSL1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the OBSL1 gene.
More info about this panel Spain.
3M Syndrome , Panel Massive Sequencing (NGS) CUL7, OBSL1, CCDC8 Genes Panel
Spain.
By Reference Laboratory Genetics 3M Syndrome , Panel Massive Sequencing (NGS) CUL7, OBSL1, CCDC8 Genes that also includes the following genes: CUL7 CCDC8 OBSL1
More info about this panel Spain.
3-M Syndrome: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics 3-M Syndrome: gene sequencing panel that also includes the following genes: CUL7 CCDC8 OBSL1
More info about this panel Canada.
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