COL4A2 gene related symptoms and diseases
All the information presented here about the COL4A2 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 COL4A2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Strabismus | Common - Between 50% and 80% cases |
| Porencephalic cyst | Common - Between 50% and 80% cases |
| Hemiplegia | Common - Between 50% and 80% cases |
| Ventriculomegaly | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with COL4A2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Spasticity
- Intracranial hemorrhage
- Global developmental delay
- Stroke
- Cerebral hemorrhage
- Intellectual disability
Not very common - Between 30% and 50% cases
- Dysphasia
- Cortical dysplasia
And 53 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COL4A2 gene
Here you will find a list of rare diseases related to the COL4A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
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).
Most common symptoms of FAMILIAL PORENCEPHALY
- Intellectual disability
- Seizures
- Global developmental delay
- Strabismus
- Cataract
More info about FAMILIAL PORENCEPHALY
PORENCEPHALY 2; POREN2
Description
Porencephaly is a neurologic disorder characterized by fluid-filled cysts or cavities in the brain and is thought to result from disturbed vascular supply leading to cerebral degeneration. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012).For a discussion of genetic heterogeneity of porencephaly, see POREN1 (OMIM ).
Most common symptoms of PORENCEPHALY 2; POREN2
- Intellectual disability
- Seizures
- Global developmental delay
- Strabismus
- Spasticity
More info about PORENCEPHALY 2; POREN2
SOURCES: OMIM
Search interest in COL4A2
Potential gene panels for COL4A2 gene
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 United Kingdom.
COL4A2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the COL4A2 gene.
More info about this panel Spain.
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 Spain.
Porencephaly 2 (sequence analysis of COL4A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL4A2 gene.
More info about this panel Portugal.
Porencephaly 2 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the COL4A2 gene.
More info about this panel Germany.
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 Germany.
Hanac Syndrome Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the COL4A2 gene.
More info about this panel United Kingdom.
Familial Porencephaly Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the COL4A2 gene.
More info about this panel United Kingdom.
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 United States.
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 United States.
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 United States.
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 United States.
Porencephaly 2 Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL4A2 gene.
More info about this panel United States.
Porencephaly 2 NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL4A2 gene.
More info about this panel United States.
Porencephaly 2 Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL4A2 gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
COL4A2 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the COL4A2 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
Porencephaly 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL4A2 gene.
More info about this panel Germany.
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 Germany.
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 Poland.
COL4A2 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the COL4A2 gene.
More info about this panel Belgium.
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 Belgium.
COL4A2 - Gene sequencing Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the COL4A2 gene.
More info about this panel Netherlands.
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
More info about this panel United States.
COL4A2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL4A2 gene.
More info about this panel United States.
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
More info about this panel Finland.
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
More info about this panel Finland.
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
More info about this panel Finland.
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
More info about this panel Finland.
Hemorrhage, intracerebral, susceptibility to Panel
Spain.
By Bioarray
This panel specifically test the COL4A2 gene.
More info about this panel Spain.
FAMILIAL PORENCEPHALY Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL PORENCEPHALY that also includes the following genes: COL4A1 COL4A2
More info about this panel Spain.
Porencephaly Type 2 , Sequencing COL4A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the COL4A2 gene.
More info about this panel Spain.
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
More info about this panel Spain.
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
More info about this panel Spain.
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