COL4A1 gene related symptoms and diseases

All the information presented here about the COL4A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COL4A1 gene

Symptoms // Phenotype % Cases
Seizures Common - Between 50% and 80% cases
Dilatation Common - Between 50% and 80% cases
Muscle cramps Uncommon - Between 30% and 50% cases
Leukoencephalopathy Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with COL4A1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Cerebral hemorrhage
  • Stroke
  • Cataract
  • Strabismus
  • Global developmental delay
  • Renal cyst
  • Hemiparesis
  • Hydrocephalus

And 212 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to COL4A1 gene

Here you will find a list of rare diseases related to the COL4A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY


Alternate names

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage, leukoencephalopathy with axenfeld-rieger anomaly, brain small vessel disease with axenfeld-rieger anomaly, brain small vessel disease with hemorrhage, infantile hemiparesis, retinal arteriolar tortuosi

Description

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

Most common symptoms of COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

SOURCES: ORPHANET MESH OMIM

HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH


Alternate names

HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH Is also known as stroke, hemorrhagic, susceptibility to

Most common symptoms of HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH

  • Seizures
  • Hypertension
  • Stroke
  • Lower limb muscle weakness
  • Type II diabetes mellitus


More info about HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH

SOURCES: OMIM MESH

SCHIZENCEPHALY


Description

Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness.Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see {236100}).

Most common symptoms of SCHIZENCEPHALY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about SCHIZENCEPHALY

SOURCES: ORPHANET OMIM

FAMILIAL PORENCEPHALY


Alternate names

FAMILIAL PORENCEPHALY Is also known as t1p, porencephaly, type 1, autosomal dominant, adt1p, hemiplegia, infantile, with porencephaly porencephaly, type 1

Description

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

Most common symptoms of FAMILIAL PORENCEPHALY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


More info about FAMILIAL PORENCEPHALY

SOURCES: OMIM ORPHANET

WALKER-WARBURG SYNDROME


Alternate names

WALKER-WARBURG SYNDROME Is also known as hard syndrome, cerebroocular dysplasia-muscular dystrophy syndrome, hydrocephalus, agyria, and retinal dysplasia, walker-warburg syndrome or muscle-eye-brain disease, pomt1-related, wws, hydrocephalus-agyria-retinal dysplasia syndrome, cod-md syndrome

Description

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

Most common symptoms of WALKER-WARBURG SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about WALKER-WARBURG SYNDROME

SOURCES: ORPHANET OMIM

HANAC SYNDROME


Alternate names

HANAC SYNDROME Is also known as hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome, autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Description

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.

Most common symptoms of HANAC SYNDROME

  • Seizures
  • Strabismus
  • Cataract
  • Flexion contracture
  • Visual impairment


More info about HANAC SYNDROME

SOURCES: MESH OMIM ORPHANET

RETINAL ARTERIAL TORTUOSITY


Alternate names

RETINAL ARTERIAL TORTUOSITY Is also known as retinal hemorrhage with vascular tortuosity, retinal arteriolar tortuosity, tortuosity of retinal arteries

Description

Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma (summary by Nischler et al., 2011).

Most common symptoms of RETINAL ARTERIAL TORTUOSITY

  • Visual impairment
  • Dilatation
  • Visual loss
  • Photophobia
  • Hypopigmentation of the skin


More info about RETINAL ARTERIAL TORTUOSITY

SOURCES: OMIM ORPHANET

PONTINE AUTOSOMAL DOMINANT MICROANGIOPATHY WITH LEUKOENCEPHALOPATHY


Alternate names

PONTINE AUTOSOMAL DOMINANT MICROANGIOPATHY WITH LEUKOENCEPHALOPATHY Is also known as padmal


More info about PONTINE AUTOSOMAL DOMINANT MICROANGIOPATHY WITH LEUKOENCEPHALOPATHY

SOURCES: ORPHANET

FAMILIAL SCHIZENCEPHALY



More info about FAMILIAL SCHIZENCEPHALY

SOURCES: ORPHANET


Potential gene panels for COL4A1 gene

COL4A1 Sequencing Test (CSVD) Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the COL4A1 gene.

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel

Optic Atrophy and Early Glaucoma Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP

More info about this panel

Comprehensive Brain Malformation Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8

More info about this panel

Migraine and Strokes Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Migraine and Strokes Panel that also includes the following genes: SCN1A SLC2A1 CACNA1A COL4A1 NOTCH3 ATP1A2 POLG HTRA1

More info about this panel

Septo-Optic Dysplasia and Schizencephaly Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Septo-Optic Dysplasia and Schizencephaly that also includes the following genes: SHH SIX3 SOX2 COL4A1 EMX2 HESX1

More info about this panel

Anophthalmia/microphthalmia Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2

More info about this panel

Anterior segment defects Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anterior segment defects that also includes the following genes: PORCN B3GLCT COL4A1 CYP1B1 EYA1 FOXC1 FOXE3 KERA LAMB2 PAX2

More info about this panel

Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ATP11C ABCG5 ABCG8 COL4A1 PIEZO1

More info about this panel

Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8

More info about this panel

COL4A1 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 COL4A1 gene.

More info about this panel

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Familial Porencephaly Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Familial Porencephaly that also includes the following genes: COL4A1 COL4A2

More info about this panel

COL4A1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the COL4A1 gene.

More info about this panel

COL4A1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the COL4A1 gene.

More info about this panel

COL4A1, COL4A2. NextGeneDx. Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica COL4A1, COL4A2. NextGeneDx. Complete sequencing by NGS that also includes the following genes: COL4A1 COL4A2

More info about this panel

Porencephaly 1 (sequence analysis of COL4A1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the COL4A1 gene.

More info about this panel

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel

Portugal.

By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1

More info about this panel

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel

Portugal.

By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1

More info about this panel

Brain small vessel disease with hemorrhage Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the COL4A1 gene.

More info about this panel

Porencephaly 1 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the COL4A1 gene.

More info about this panel

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the COL4A1 gene.

More info about this panel

STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO that also includes the following genes: COL4A1 COL4A2

More info about this panel

COL4A1-Related Disorders Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the COL4A1 gene.

More info about this panel

Porencephaly 1 Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the COL4A1 gene.

More info about this panel

Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection that also includes the following genes: B3GLCT COL4A1 CYP1B1 SH3PXD2B FOXC1 FOXE3 ASPH PAX6 PITX2

More info about this panel

Glaucoma Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Glaucoma Sequencing Panel with CNV Detection that also includes the following genes: SLC4A4 ATOH7 OPTN MFRP COL4A1 COL8A1 COL8A2 CYP1B1 SH3PXD2B WDR36

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1

More info about this panel

Porencephaly Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Porencephaly Deletion / Duplication panel that also includes the following genes: COL4A1 COL4A2

More info about this panel

Porencephaly Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Porencephaly Comprehensive panel that also includes the following genes: COL4A1 COL4A2

More info about this panel

Porencephaly NGS panel Panel

United States.

By Connective Tissue Gene Tests Porencephaly NGS panel that also includes the following genes: COL4A1 COL4A2

More info about this panel

Porencephaly 1 Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL4A1 gene.

More info about this panel

Porencephaly 1 NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL4A1 gene.

More info about this panel

Porencephaly 1 Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL4A1 gene.

More info about this panel

Cerebral small vessel disease Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cerebral small vessel disease Comprehensive panel that also includes the following genes: TREX1 COL4A1 COL4A2 CTC1 GLA NOTCH3 HTRA1

More info about this panel

Cerebral small vessel disease Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cerebral small vessel disease Deletion / Duplication panel that also includes the following genes: TREX1 COL4A1 COL4A2 CTC1 GLA NOTCH3 HTRA1

More info about this panel

Cerebral small vessel disease NGS panel Panel

United States.

By Connective Tissue Gene Tests Cerebral small vessel disease NGS panel that also includes the following genes: TREX1 COL4A1 COL4A2 CTC1 GLA NOTCH3 HTRA1

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Cataract Panel

Germany.

By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B

More info about this panel

COL4A1-Related Disorders Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the COL4A1 gene.

More info about this panel

Pulmonary diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Vascular and connective tissue diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome Panel

Germany.

By MGZ Medical Genetics Center Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome that also includes the following genes: B3GLCT COL4A1 COL4A2 CYP1B1 MIR184 SLC38A8 EYA1 FOXC1 FOXE3 LTBP2

More info about this panel

Collagen Type IV-Associated Disorders and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Collagen Type IV-Associated Disorders and Phenocopies that also includes the following genes: JAM3 COL4A1 COL4A2

More info about this panel

Teenager Stroke / Stroke-Like Episodes Panel

Germany.

By MGZ Medical Genetics Center Teenager Stroke / Stroke-Like Episodes that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TREX1 TTR SLC2A10 CACNA1C CBS ADA2 COL3A1

More info about this panel

Porencephaly, familial Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COL4A1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

COL4A1 Panel

Denmark.

By Amplexa Genetics Amplexa Genetics A/S

This panel specifically test the COL4A1 gene.

More info about this panel

Neuronal Migration Disorders Panel Panel

Germany.

By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1

More info about this panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Germany.

By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2

More info about this panel

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel

Germany.

By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2

More info about this panel

Neuronal Migration Disorders Panel Panel

Germany.

By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1

More info about this panel

Walker-Warburg Syndrome Panel Panel

Germany.

By CeGaT GmbH Walker-Warburg Syndrome Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 COL4A1 GMPPB POMGNT2 POMK DAG1

More info about this panel

Basal ganglia calcification Panel Panel

Germany.

By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2

More info about this panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

More info about this panel

Small vessel disease Panel Panel

Germany.

By CeGaT GmbH Small vessel disease Panel that also includes the following genes: TREX1 COL4A1 CTC1 GLA NOTCH3 HTRA1

More info about this panel

Single gene testing COL4A1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the COL4A1 gene.

More info about this panel

Cerebral small vessel disease Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Cerebral small vessel disease that also includes the following genes: TREX1 COL4A1 COL4A2 GLA NOTCH3 HTRA1

More info about this panel

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis that also includes the following genes: BMP4 SIX6 SOX2 VAX1 VSX1 MFRP RAX VSX2 B3GLCT SMOC1

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Porencephaly gene panel Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital Porencephaly gene panel that also includes the following genes: COL4A1 COL4A2

More info about this panel

COL4A1 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the COL4A1 gene.

More info about this panel

Developmental Eye Disease panel Panel

United States.

By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1

More info about this panel

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome: COL4A1 gene sequence analysis (exons 24, 25) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the COL4A1 gene.

More info about this panel

Brain small-vessel disease with Hemorrhage: COL4A1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the COL4A1 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

DYSTROGLYCANOPATHY Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTROGLYCANOPATHY that also includes the following genes: B4GAT1 FKRP POMGNT1 POMT2 COL4A1 DAG1 DPM3 FKTN ISPD LARGE1

More info about this panel

COL4A1 - Gene sequencing Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the COL4A1 gene.

More info about this panel

Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel that also includes the following genes: BMP4 SOX2 VAX1 MFRP GRIP1 FRAS1 VSX2 B3GLCT SMOC1 BCOR

More info about this panel

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel that also includes the following genes: BMP4 SOX2 VAX1 MFRP GRIP1 FRAS1 VSX2 B3GLCT SMOC1 BCOR

More info about this panel

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Connective Tissue NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Connective Tissue NGS Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2

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Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

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Hemiplegia/Stroke NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hemiplegia/Stroke NGS Panel that also includes the following genes: SCN1A SLC2A1 CACNA1A COL4A1 COL4A2 NOTCH3 ATP1A2 ATP1A3 OTC POLG

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COL4A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL4A1 gene.

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Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

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KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

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Cystic Kidney Disease Panel Panel

Finland.

By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS

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Collagen Type VI-Related Disorders Panel Panel

Finland.

By Blueprint Genetics Collagen Type VI-Related Disorders Panel that also includes the following genes: COL12A1 COL4A1 COL4A2 COL6A1 COL6A2 COL6A3

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LGMD and Congenital Muscular Dystrophy Panel Panel

Finland.

By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

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Comprehensive Muscular Dystrophy / Myopathy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN

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Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel

Finland.

By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN

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Leukodystrophy and Leukoencephalopathy Panel Panel

Finland.

By Blueprint Genetics Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: SCO1 AIMP1 SOX10 TREX1 GFM1 NDUFAF5 SAMHD1 NFU1 MRPL44 MLC1

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Glaucoma Panel Panel

Finland.

By Blueprint Genetics Glaucoma Panel that also includes the following genes: TBK1 TEK CNTNAP2 OPTN COL4A1 TMEM126A CYP1B1 WDR36 FOXC1 FOXE3

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Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

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Cataract Panel Panel

Finland.

By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1

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Neuronal Migration Disorder Panel Panel

Finland.

By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18

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Familial vascular leukoencephalopathy Panel

Spain.

By Bioarray

This panel specifically test the COL4A1 gene.

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Hemorrhage, intracerebral, susceptibility to Panel

Spain.

By Bioarray

This panel specifically test the COL4A1 gene.

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FAMILIAL SCHIZENCEPHALY Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL SCHIZENCEPHALY that also includes the following genes: SHH SIX3 COL4A1 EMX2

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FAMILIAL PORENCEPHALY Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL PORENCEPHALY that also includes the following genes: COL4A1 COL4A2

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GLAUCOMA NGS ÀNEL Panel

Spain.

By Laboratorio de Genetica Clinica SL GLAUCOMA NGS ÀNEL that also includes the following genes: SLC4A4 TEK BEST1 ACVR1 OPTN ASB10 MFRP CANT1 SBF2 COL18A1

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Porencephaly, familial Panel

Canada.

By LifeLabs Genetics

This panel specifically test the COL4A1 gene.

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Familial Vascular Leukoencephalopathy, Sequencing COL4A1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the COL4A1 gene.

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Hereditary Angiopathy with Nephropathy-Aneurysms and Muscle Cramps (HANAC),Sequencing Exons (24-25) COL4A1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the COL4A1 gene.

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Porencephaly Type 1 , Sequencing COL4A1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the COL4A1 gene.

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Schizencephaly , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Schizencephaly , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: SHH SIX3 COL4A1 EMX2

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Dolichoectasia , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Dolichoectasia , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SLC2A10 COL4A1 COL4A2 GAA MMP3

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Porencephaly , Panel Massive Sequencing (NGS) COL4A1, COL4A2 Genes Panel

Spain.

By Reference Laboratory Genetics Porencephaly , Panel Massive Sequencing (NGS) COL4A1, COL4A2 Genes that also includes the following genes: COL4A1 COL4A2

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

Spain.

By Reference Laboratory Genetics Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes that also includes the following genes: TUBA8 VLDLR ACTB ACTG1 CASK ARFGEF2 NDE1 FKRP ARX ASPM

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