ADGRG6 gene related symptoms and diseases

All the information presented here about the ADGRG6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ADGRG6 gene

Symptoms // Phenotype % Cases
Scoliosis Very Common - Between 80% and 100% cases
Congenital contracture Very Common - Between 80% and 100% cases
Pulmonary hypoplasia Very Common - Between 80% and 100% cases
Triangular face Very Common - Between 80% and 100% cases
Decreased fetal movement Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ADGRG6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Joint contracture of the hand
  • Adducted thumb
  • Pterygium
  • Bilateral talipes equinovarus
  • Arthrogryposis multiplex congenita
  • Ankylosis
  • Cardiorespiratory arrest
  • Preeclampsia

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ADGRG6 gene

Here you will find a list of rare diseases related to the ADGRG6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9


Most common symptoms of LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

SOURCES: OMIM


Potential gene panels for ADGRG6 gene

Congenital Contractures Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6

More info about this panel

Congenital contracture syndrome extended NGS panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Lethal congenital contracture syndrome and related disorders Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Comprehensive Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders NGS Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders NGS Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel

Germany.

By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN

More info about this panel

ADGRG6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADGRG6 gene.

More info about this panel

Arthrogryposes Panel Panel

Finland.

By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B

More info about this panel


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