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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM MESH


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

OBSL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the OBSL1 gene.

More info about this panel

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

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

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

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

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

THREE M SYNDROME 2; 3M2 Panel

Spain.

By Bioarray

This panel specifically test the OBSL1 gene.

More info about this panel

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

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ITPR1-DT ALDH1A3

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more