ADGRG1 gene related symptoms and diseases

All the information presented here about the ADGRG1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM.

Top 5 symptoms associated to ADGRG1 gene



Symptoms // Phenotype % Cases
Polymicrogyria Very Common - Between 80% and 100% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Perisylvian polymicrogyria Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with ADGRG1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Esotropia

Not very common - Between 30% and 50% cases

Seizures Ataxia Frontoparietal polymicrogyria Broad-based gait Hypoplasia of the brainstem Congenital muscular dystrophy Ankle clonus

And 36 more phenotypes.

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Rare diseases associated to ADGRG1 gene

Here you will find a list of rare diseases related to the ADGRG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP

Alternate names

POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP Is also known as cerebellar ataxia with neuronal migration defect;

Description

Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.

Most common symptoms of POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica


More info about POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP

SOURCES: MESH OMIM UMLS MONDO ORPHANET NCIT GARD

POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR

Alternate names

POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR Is also known as pmgr

Description

Autosomal recessive bilateral perisylvian polymicrogyria is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability (Bae et al., 2014).

Most common symptoms of POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Nystagmus
  • Polymicrogyria


More info about POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR

SOURCES: OMIM UMLS MONDO

POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX

Alternate names

POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX Is also known as pmgx, bpp, perisylvian syndrome, congenital bilateral;cbps;

Description

Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).PMG may be a feature of other conditions as well (see, e.g., {300643}).

Most common symptoms of POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX

  • Cognitive impairment
  • Delayed speech and language development
  • Polymicrogyria
  • Generalized tonic-clonic seizures
  • X-linked dominant inheritance


More info about POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED; BPPX

SOURCES: ORPHANET OMIM SCTID UMLS MONDO

Potential gene panels for ADGRG1 gene

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

By Athena Diagnostics Inc in United States. Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: PAX6 CPT2 SHH SLC25A19 TUBA1A FGFR3 ARX WDR62 FKTN PEX7

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

By Athena Diagnostics Inc in United States. Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: UBE3A ALPL ADSL PAX6 CPT2 ATP6V0A2 HSD17B10 HPRT1 ADGRV1 SHH

More info about this panel

NGS Epilepsy/Seizure Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. NGS Epilepsy/Seizure Panel that also includes the following genes: MTHFR UBE3A ADSL SHH POLG SLC25A19 MECP2 LIAS ABAT GAMT

More info about this panel

Comprehensive Brain Malformation Panel Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Comprehensive Brain Malformation Panel that also includes the following genes: UBE3A PTEN TUBB3 CC2D2A OTX2 TMEM67 NPHP1 CEP290 SHH SLC25A19

More info about this panel

Epilepsy/Seizure Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Epilepsy/Seizure that also includes the following genes: MTHFR UBE3A BTD ADSL MMACHC ADGRV1 POLG MECP2 LIAS ABAT

More info about this panel

Polymicrogyria Deletion/Duplication Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Polymicrogyria Deletion/Duplication Panel that also includes the following genes: TUBB3 TUBA1A WDR62 NDE1 RAB3GAP1 TUBA8 ADGRG1 TUBB2B KIF1BP GPSM2

More info about this panel

GPR56 sequencing Panel

By Genetic Services Laboratory University of Chicago in United States.

This panel specifically test the ADGRG1 gene.

More info about this panel

Cerebral Cortical Deletion/Duplication Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Cerebral Cortical Deletion/Duplication Panel that also includes the following genes: TUBB3 TUBA1A ARX WDR62 FKTN POMGNT1 FKRP POMT2 POMT1 LARGE1

More info about this panel

Cerebral Cortical Malformation Sequencing Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Cerebral Cortical Malformation Sequencing Panel that also includes the following genes: TUBB3 ATP6V0A2 SRD5A3 TUBA1A ARX WDR62 FKTN POMGNT1 FKRP DYNC1H1

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Lissencephaly Sequencing Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Lissencephaly Sequencing Panel that also includes the following genes: TUBB3 ATP6V0A2 SRD5A3 TUBA1A ARX FKTN POMGNT1 FKRP DYNC1H1 POMT2

More info about this panel

GPR56 deletion/duplication analysis Panel

By Genetic Services Laboratory University of Chicago in United States.

This panel specifically test the ADGRG1 gene.

More info about this panel

Polymicrogyria Sequencing Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Polymicrogyria Sequencing Panel that also includes the following genes: TUBB3 TUBA1A WDR62 NDE1 RAB3GAP1 TUBA8 ADGRG1 TUBB2B KIF1BP GPSM2

More info about this panel

Comprehensive Lissencephaly Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Comprehensive Lissencephaly Panel that also includes the following genes: TUBB3 ATP6V0A2 SRD5A3 TUBA1A ARX FKTN POMGNT1 FKRP DYNC1H1 POMT2

More info about this panel

Cerebral Cortical Malformations Deletion/Duplication Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Cerebral Cortical Malformations Deletion/Duplication Panel that also includes the following genes: TUBB3 ATP6V0A2 SRD5A3 TUBA1A ARX WDR62 FKTN POMGNT1 FKRP DYNC1H1

More info about this panel

Ataxia Exome Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Ataxia Exome Panel that also includes the following genes: FMR1 TTR UBE3A AARS2 ABHD12 PC UQCRQ UQCRB HLCS BTD

More info about this panel

GPR56 Panel

By Institute for Human Genetics University Clinic Freiburg in Germany.

This panel specifically test the ADGRG1 gene.

More info about this panel

Comprehensive Brain Malformations Panel Panel

By GeneDx in United States. Comprehensive Brain Malformations Panel that also includes the following genes: TUBB3 INPP5E CC2D2A TMEM67 NPHP1 CEP290 TUBA1A RARS2 MKS1 ARX

More info about this panel

Cortical Brain Malformations Panel Panel

By GeneDx in United States. Cortical Brain Malformations Panel that also includes the following genes: TUBB3 TUBA1A ARX FKTN POMGNT1 FKRP POMT2 POMT1 LARGE1 ARFGEF2

More info about this panel

GPR56. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

This panel specifically test the ADGRG1 gene.

More info about this panel

Polymicrogyria, bilateral frontoparietal (sequence analysis of GPR56 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the ADGRG1 gene.

More info about this panel

Bilateral frontoparietal polymicrogyria (BFPP) via ADGRG1 (GPR56) Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States.

This panel specifically test the ADGRG1 gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: PC TYROBP ATP7A ATP7B TWNK ADSL HSD17B4 CPS1 PSAP GLB1

More info about this panel

Lissencephaly and related disorders NGS test Panel

By Connective Tissue Gene Tests in United States. Lissencephaly and related disorders NGS test that also includes the following genes: TUBB3 ATP6V0A2 SRD5A3 TUBA1A ARX WDR62 FKTN POMGNT1 FKRP DYNC1H1

More info about this panel

Lissencephaly and related disorders Deletion / Duplication test Panel

By Connective Tissue Gene Tests in United States. Lissencephaly and related disorders Deletion / Duplication test that also includes the following genes: TUBB3 ATP6V0A2 SRD5A3 TUBA1A ARX WDR62 FKTN POMGNT1 FKRP DYNC1H1

More info about this panel

Lissencephaly and related disorders Comprehensive test Panel

By Connective Tissue Gene Tests in United States. Lissencephaly and related disorders Comprehensive test that also includes the following genes: TUBB3 ATP6V0A2 SRD5A3 TUBA1A ARX WDR62 FKTN POMGNT1 FKRP DYNC1H1

More info about this panel

Mental retardation - different panels Panel

By Institute of Human Genetics Cologne University in Germany. Mental retardation - different panels that also includes the following genes: FMR1 UBE3A PTEN MCCC1 MCCC2 ACAD9 PC ANKH HLCS ATP7A

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

By MGZ Medical Genetics Center in Germany. Brain Malformations / Neuronal Migration Disorders that also includes the following genes: FMR1 UBE3A PTEN APP TUBB3 HSD17B10 HPRT1 PANK2 FH MECP2

More info about this panel

Polymicrogyria Panel

By MGZ Medical Genetics Center in Germany. Polymicrogyria that also includes the following genes: TUBB3 FH TUBA1A CHD7 WDR62 NDE1 TUBA8 ADGRG1 SRPX2 TUBB2B

More info about this panel

Polymicrogyria, bilateral frontoparietal Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the ADGRG1 gene.

More info about this panel

AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: F2 F5 FMR1 HTT HFE MTHFR TTR UBE3A VHL PTEN

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GPR56 Panel

By Amplexa Genetics Amplexa Genetics A/S in Denmark.

This panel specifically test the ADGRG1 gene.

More info about this panel

Neuronal Migration Disorders Panel Panel

By CeGaT GmbH in Germany. Neuronal Migration Disorders Panel that also includes the following genes: TUBB3 FH TUBA1A ARX MEF2C WDR62 FKTN POMGNT1 FKRP DYNC1H1

More info about this panel

Neuronal Migration Disorders Panel Panel

By CeGaT GmbH in Germany. Neuronal Migration Disorders Panel that also includes the following genes: TUBB3 FH TUBA1A ARX MEF2C WDR62 FKTN POMGNT1 FKRP DYNC1H1

More info about this panel

Ataxia and differential diagnoses Panel Panel

By CeGaT GmbH in Germany. Ataxia and differential diagnoses Panel that also includes the following genes: FMR1 AARS2 ABHD12 UQCRQ BTD ATP7B AUH TWNK PRKCG PAX6

More info about this panel

Test for Polymicrogyria Panel

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

This panel specifically test the ADGRG1 gene.

More info about this panel

Brain malformations Panel

By Asper Biogene Asper Biogene LLC in Estonia. Brain malformations that also includes the following genes: TUBB3 INPP5E CC2D2A ATP6V0A2 SRD5A3 TMEM67 NPHP1 CEP290 DLD SLC25A19

More info about this panel

qChip Panel

By Quantitative Genomic Medicine Laboratories, SL in Spain. qChip that also includes the following genes: FMR1 UBE3A APC PTEN TP53 FOXL2 EYA1 COL2A1 OCA2 APP

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Bilateral frontoparietal Polymicrogyria: GPR56 gene sequence analysis Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

This panel specifically test the ADGRG1 gene.

More info about this panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: MTHFR UBE3A ADSL ADGRV1 SHH POLG SLC25A19 MECP2 LIAS ABAT

More info about this panel

Brain Malformations: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Brain Malformations: Sequencing Panel that also includes the following genes: TUBB3 CC2D2A TMEM67 NPHP1 CEP290 TUBA1A RARS2 MKS1 ARX WDR62

More info about this panel

Neurology: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Neurology: Sequencing Panel that also includes the following genes: UBE3A ADSL TUBB3 CC2D2A TMEM67 NPHP1 ADGRV1 CEP290 SHH POLG

More info about this panel

Brain Malformations: Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Brain Malformations: Deletion/Duplication Panel that also includes the following genes: TUBB3 CC2D2A TMEM67 NPHP1 CEP290 TUBA1A RARS2 MKS1 ARX WDR62

More info about this panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: MTHFR UBE3A ADSL ADGRV1 SHH POLG SLC25A19 MECP2 LIAS ABAT

More info about this panel

Epilepsy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Epilepsy NGS Panel that also includes the following genes: MTHFR UBE3A PC ARG1 BTD ATPAF2 BCS1L C12orf65 ADSL PAX6

More info about this panel

Polymicrogyria NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Polymicrogyria NGS Panel that also includes the following genes: TUBB3 TUBA1A TUBA8 ADGRG1 SRPX2 TUBB2B KIF1BP

More info about this panel

ADGRG1 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ADGRG1 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Comprehensive Epilepsy NGS Panel that also includes the following genes: MTHFR UBE3A PC ARG1 BTD ATPAF2 AUH BCS1L TWNK C12orf65

More info about this panel

Polymicrogyria Panel Panel

By Blueprint Genetics in Finland. Polymicrogyria Panel that also includes the following genes: TUBB3 FH TUBA1A WDR62 NDE1 TUBA8 ADGRG1 SRPX2 TUBB2B KIF1BP

More info about this panel

Neuronal Migration Disorder Panel Panel

By Blueprint Genetics in Finland. Neuronal Migration Disorder Panel that also includes the following genes: TUBB3 ATP6V0A2 FH TUBA1A ARX MEF2C WDR62 FKTN PHGDH L1CAM

More info about this panel

Bilateral frontoparietal polymicrogyria Panel

By Bioarray in Spain.

This panel specifically test the ADGRG1 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

By Allele Diagnostics Allele Diagnostics in United States. Rapid microarray (CGH and SNP) that also includes the following genes: FMR1 UBE3A VHL APC PTEN TP53 USH1C ATP7A FOXL2 HBB

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

By Allele Diagnostics Allele Diagnostics in United States. High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: FMR1 UBE3A VHL APC PTEN TP53 USH1C ATP7A FOXL2 HBB

More info about this panel

POLYMICROGYRIA, BILATERAL FRONTOPARIETAL Panel

By Laboratorio de Genetica Clinica SL in Spain.

This panel specifically test the ADGRG1 gene.

More info about this panel

Bilateral Frontoparietal Polymicrogyria , Sequencing GPR56 Gene Panel

By Reference Laboratory Genetics in Spain.

This panel specifically test the ADGRG1 gene.

More info about this panel

Polymicrogyria , Panel Massive Sequencing (NGS) 10 Genes Panel

By Reference Laboratory Genetics in Spain. Polymicrogyria , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: TUBB3 TUBA1A FIG4 TUBA8 ADGRG1 SRPX2 TUBB2B PIK3R2 AKT3 OCLN

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Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel

By Reference Laboratory Genetics in Spain. Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes that also includes the following genes: TUBB3 TUBA1A ARX FOXG1 WDR62 FKTN POMGNT1 FKRP DYNC1H1 POMT2

More info about this panel

Polymicrogyria: gene sequencing Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

This panel specifically test the ADGRG1 gene.

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Other genes that you may find interesting

PYURF