Porencephaly 1; Poren1

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 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Porencephaly 1; Poren1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract
  • Milia
  • Cognitive impairment
  • Spasticity
  • Anemia
  • Dysarthria
And another 51 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Porencephaly 1; Poren1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Familial Porencephaly.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

COL4A1, COL4A2
Specificity
100 %
Genes
100 %
COL4A2. Complete sequencing.

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

COL4A2
Specificity
100 %
Genes
50 %
COL4A1, COL4A2. NextGeneDx. Complete sequencing by NGS.

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

COL4A1, COL4A2
Specificity
100 %
Genes
100 %
Porencephaly 2 (sequence analysis of COL4A2 gene).

By CGC Genetics in Portugal.

COL4A2
Specificity
100 %
Genes
50 %
Porencephaly 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

COL4A2
Specificity
100 %
Genes
50 %
STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

COL4A1, ACE, COL4A2
Specificity
67 %
Genes
100 %
Hanac Syndrome.

By Exeter Molecular Genetics Laboratory in United Kingdom.

COL4A2
Specificity
100 %
Genes
50 %
Familial Porencephaly.

By Exeter Molecular Genetics Laboratory in United Kingdom.

COL4A2
Specificity
100 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
2 %
Genes
100 %
Porencephaly Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL4A1, COL4A2
Specificity
100 %
Genes
100 %
Porencephaly Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL4A1, COL4A2
Specificity
100 %
Genes
100 %
Porencephaly NGS panel.

By Connective Tissue Gene Tests in United States.

COL4A1, COL4A2
Specificity
100 %
Genes
100 %
Porencephaly 2 Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL4A2
Specificity
100 %
Genes
50 %
Porencephaly 2 NGS Test.

By Connective Tissue Gene Tests in United States.

COL4A2
Specificity
100 %
Genes
50 %
Porencephaly 2 Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL4A2
Specificity
100 %
Genes
50 %
Cerebral small vessel disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1, COL4A2
Specificity
29 %
Genes
100 %
Cerebral small vessel disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1, COL4A2
Specificity
29 %
Genes
100 %
Cerebral small vessel disease NGS panel.

By Connective Tissue Gene Tests in United States.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1, COL4A2
Specificity
29 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Cataract.

By MGZ Medical Genetics Center in Germany.

EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...)

View the complete list with 45 more genes
Specificity
4 %
Genes
100 %
COL4A2.

By MGZ Medical Genetics Center in Germany.

COL4A2
Specificity
100 %
Genes
50 %
Pulmonary diseases - panels.

By MGZ Medical Genetics Center in Germany.

ELN, SARS2, CFTR, ENG, NOTCH3, CAV3, COL4A1, NOTCH1, ACVRL1, BMPR1B, CCNO, DNAAF4, KCNK3, CAV1, SMAD9, DNAAF3, DNAAF1, RSPH9, RSPH4A, DNAAF2 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
2 %
Genes
100 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
3 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome.

By MGZ Medical Genetics Center in Germany.

EYA1, PAX6, FOXC1, PITX2, CYP1B1, MYOC, COL4A1, FOXE3, LTBP2, B3GLCT, COL4A2, ASPH, SLC38A8, MIR184
Specificity
15 %
Genes
100 %
Collagen Type IV-Associated Disorders and Phenocopies.

By MGZ Medical Genetics Center in Germany.

COL4A1, COL4A2, JAM3
Specificity
67 %
Genes
100 %
Teenager Stroke / Stroke-Like Episodes.

By MGZ Medical Genetics Center in Germany.

TTR, COL3A1, AMACR, POLG, FBN1, OTC, CBS, GLA, NOTCH3, COL4A1, FLNA, TREX1, HTRA1, CACNA1C, TGFB2, TGFBR1, TGFBR2, SLC2A10, ABCC6, ADA2 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Porencephaly 2.

By Centogene AG - the Rare Disease Company in Germany.

COL4A2
Specificity
100 %
Genes
50 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
2 %
Genes
100 %
Cerebral small vessel disease.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, COL4A2
Specificity
34 %
Genes
100 %
COL4A2 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL4A2
Specificity
100 %
Genes
50 %
Porencephaly gene panel.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL4A1, COL4A2
Specificity
100 %
Genes
100 %
COL4A2 - Gene sequencing.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL4A2
Specificity
100 %
Genes
50 %
Hemiplegia/Stroke NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

POLG, OTC, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2, ATP1A3, COL4A1, COL4A2
Specificity
20 %
Genes
100 %
COL4A2.

By Fulgent Genetics Fulgent Genetics in United States.

COL4A2
Specificity
100 %
Genes
50 %
Collagen Type VI-Related Disorders Panel.

By Blueprint Genetics in Finland.

COL6A2, COL6A3, COL6A1, COL4A1, COL12A1, COL4A2
Specificity
34 %
Genes
100 %
LGMD and Congenital Muscular Dystrophy Panel.

By Blueprint Genetics in Finland.

TRIM32, CRYAB, PNPLA2, DMD, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, MYH7, ANO5, MYOT, SELENON, MEGF10 , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
100 %
Comprehensive Muscular Dystrophy / Myopathy Panel.

By Blueprint Genetics in Finland.

GAA, TRIM32, POLG, CRYAB, PNPLA2, SEPT9, DMD, FKTN, NEB, SGCA, SGCB, SGCG, CAPN3, LMNA, PABPN1, FKRP, CAV3, DYSF, TTN, DES , (...)

View the complete list with 53 more genes
Specificity
3 %
Genes
100 %
Neuronal Migration Disorder Panel.

By Blueprint Genetics in Finland.

TUBB3, ATP6V0A2, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, PHGDH, L1CAM, DYNC1H1, POMT1, ISPD, LAMA2, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, ARFGEF2 , (...)

View the complete list with 38 more genes
Specificity
4 %
Genes
100 %
Hemorrhage, intracerebral, susceptibility to.

By Bioarray in Spain.

COL4A2
Specificity
100 %
Genes
50 %
Porencephaly Type 2 , Sequencing COL4A2 Gene.

By Reference Laboratory Genetics in Spain.

COL4A2
Specificity
100 %
Genes
50 %
Dolichoectasia , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

GAA, COL4A1, SLC2A10, COL4A2, MMP3
Specificity
40 %
Genes
100 %
Porencephaly , Panel Massive Sequencing (NGS) COL4A1, COL4A2 Genes.

By Reference Laboratory Genetics in Spain.

COL4A1, COL4A2
Specificity
100 %
Genes
100 %
COL4A1 Sequencing Test (CSVD).

By Athena Diagnostics Inc in United States.

COL4A1
Specificity
100 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc in United States.

PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
50 %
Optic Atrophy and Early Glaucoma Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

AUH, BEST1, C12orf65, PAX6, PITX3, OPTN, OPA1, WFS1, FOXC1, PITX2, MFRP, CYP1B1, POLG, OPA3, ACO2, MTPAP, TMEM126A, SPG7, CISD2, NDUFS1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
50 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Migraine and Strokes Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

POLG, SLC2A1, SCN1A, NOTCH3, CACNA1A, ATP1A2, COL4A1, HTRA1
Specificity
13 %
Genes
50 %
Septo-Optic Dysplasia and Schizencephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

SHH, SOX2, HESX1, COL4A1, EMX2, SIX3
Specificity
17 %
Genes
50 %
Anophthalmia/microphthalmia.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

RAX, ABCB6, MFRP, OTX2, NHS, STRA6, HCCS, BCOR, SIX6, SOX2, PAX2, PORCN, COL4A1, TFAP2A, GLI3, GDF6, FOXE3, GJA1, RARB, VAX1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Anterior segment defects.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

EYA1, PAX6, PITX3, FOXC1, PITX2, CYP1B1, PAX2, PORCN, LAMB2, COL4A1, FOXE3, B3GLCT, KERA
Specificity
8 %
Genes
50 %
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SLC2A1, COL4A1, PIEZO1, ABCG5, ABCG8, SLC4A1, GYPC, ATP11C, KCNN4, EPB41, SPTB, SPTA1, ANK1, XK, EPB42, RHAG
Specificity
7 %
Genes
50 %
Hemolytic Anemia Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ALDOA, ALAS2, GPX1, GPI, AK1, NT5C3A, HK1, PFKM, SLC2A1, G6PD, COL4A1, PIEZO1, KIF23, GATA1, KLF1, PKLR, CDAN1, SEC23B, PGK1, ABCG5 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %
COL4A1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

COL4A1
Specificity
100 %
Genes
50 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
50 %
COL4A1. Complete sequencing.

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

COL4A1
Specificity
100 %
Genes
50 %
COL4A1. Complete sequencing.

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

COL4A1
Specificity
100 %
Genes
50 %
Porencephaly 1 (sequence analysis of COL4A1 gene).

By CGC Genetics in Portugal.

COL4A1
Specificity
100 %
Genes
50 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics in Portugal.

VSX1, PAX6, PITX3, FOXC1, PITX2, JAG1, CYP1B1, FGFR2, PTCH1, COL4A1, FOXE3, BMP4, B3GLCT, ASPH, PXDN, SLC38A8, MIR184, HMX1
Specificity
6 %
Genes
50 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics in Portugal.

VSX1, PAX6, PITX3, FOXC1, PITX2, JAG1, CYP1B1, FGFR2, PTCH1, COL4A1, FOXE3, BMP4, B3GLCT, ASPH, PXDN, SLC38A8, MIR184, HMX1
Specificity
6 %
Genes
50 %
Brain small vessel disease with hemorrhage.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

COL4A1
Specificity
100 %
Genes
50 %
Porencephaly 1.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

COL4A1
Specificity
100 %
Genes
50 %
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

COL4A1
Specificity
100 %
Genes
50 %
COL4A1-Related Disorders.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

COL4A1
Specificity
100 %
Genes
50 %
Porencephaly 1.

By Exeter Molecular Genetics Laboratory in United Kingdom.

COL4A1
Specificity
100 %
Genes
50 %
Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAX6, FOXC1, PITX2, CYP1B1, COL4A1, FOXE3, SH3PXD2B, B3GLCT, ASPH
Specificity
12 %
Genes
50 %
Glaucoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PAX6, OPTN, FOXC1, PITX2, MFRP, CYP1B1, LMX1B, MYOC, COL4A1, LTBP2, SLC4A4, SH3PXD2B, WDR36, COL8A2, ATOH7, OPTC, COL8A1
Specificity
6 %
Genes
50 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
50 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VHL, INVS, LRP5, HNF1B, JAG1, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, COL4A1, OFD1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Porencephaly 1 Comprehensive Test.

By Connective Tissue Gene Tests in United States.

COL4A1
Specificity
100 %
Genes
50 %
Porencephaly 1 NGS Test.

By Connective Tissue Gene Tests in United States.

COL4A1
Specificity
100 %
Genes
50 %
Porencephaly 1 Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

COL4A1
Specificity
100 %
Genes
50 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
50 %
COL4A1-Related Disorders.

By MGZ Medical Genetics Center in Germany.

COL4A1
Specificity
100 %
Genes
50 %
Porencephaly, familial.

By Centogene AG - the Rare Disease Company in Germany.

COL4A1
Specificity
100 %
Genes
50 %
COL4A1.

By Amplexa Genetics Amplexa Genetics A/S in Denmark.

COL4A1
Specificity
100 %
Genes
50 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
50 %
Walker-Warburg Syndrome Panel.

By CeGaT GmbH in Germany.

FKTN, POMGNT1, FKRP, DAG1, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, POMK, GMPPB
Specificity
7 %
Genes
50 %
Basal ganglia calcification Panel.

By CeGaT GmbH in Germany.

TYROBP, POLG, PANK2, CA2, GALC, AIRE, BRAF, FOLR1, COL4A1, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, GFAP, GATA3, ERCC6, IFIH1, ADAR, CTC1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Small vessel disease Panel.

By CeGaT GmbH in Germany.

GLA, NOTCH3, COL4A1, TREX1, HTRA1, CTC1
Specificity
17 %
Genes
50 %
Single gene testing COL4A1.

By CeGaT GmbH in Germany.

COL4A1
Specificity
100 %
Genes
50 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.

By Asper Biogene Asper Biogene LLC in Estonia.

RAX, EYA1, VSX1, PAX6, ABCB6, FOXC1, PITX2, MFRP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, CHD7, COL4A1, GDF6, FOXE3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
COL4A1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL4A1
Specificity
100 %
Genes
50 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

RAX, PAX6, PITX3, ABCB6, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, CRX, STRA6, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, FKTN , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome: COL4A1 gene sequence analysis (exons 24, 25).

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

COL4A1
Specificity
100 %
Genes
50 %
Brain small-vessel disease with Hemorrhage: COL4A1 gene sequence analysis.

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

COL4A1
Specificity
100 %
Genes
50 %
Congenital disorder of O-linked glycosylation (CDG).

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

B4GALT7, KRT5, FKTN, POMGNT1, FKRP, FGF23, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, LARGE1, COL4A1, CHSY1, CHST14, B3GAT3, B3GALT6, B3GLCT, EXT2, EXT1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
DYSTROGLYCANOPATHY.

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

DPM3, FKTN, POMGNT1, FKRP, DAG1, POMT2, POMT1, ISPD, B4GAT1, LARGE1, COL4A1
Specificity
10 %
Genes
50 %
COL4A1 - Gene sequencing.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL4A1
Specificity
100 %
Genes
50 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAX6, PITX3, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SOX2, COL4A1, FOXE3, VAX1, FREM1, VSX2, BMP4, B3GLCT, GRIP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
50 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAX6, PITX3, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SOX2, COL4A1, FOXE3, VAX1, FREM1, VSX2, BMP4, B3GLCT, GRIP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
50 %
Connective Tissue NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL4A1, COL11A1, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
50 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
COL4A1.

By Fulgent Genetics Fulgent Genetics in United States.

COL4A1
Specificity
100 %
Genes
50 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
50 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
50 %
Cystic Kidney Disease Panel.

By Blueprint Genetics in Finland.

VHL, INVS, EYA1, LRP5, HNF1B, JAG1, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, COL4A1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

FOXL2, RAX, PAX6, ABCB6, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

PSAP, HSPD1, FOXRED1, NFU1, TTC19, NUBPL, DARS2, GFM1, D2HGDH, AIFM1, ABCD1, ALDH3A2, COX15, SDHAF1, NDUFAF5, HIBCH, GALC, L2HGDH, COX6B1, CYP27A1 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
50 %
Glaucoma Panel.

By Blueprint Genetics in Finland.

PAX6, OPTN, OPA1, FOXC1, PITX2, CYP1B1, OPA3, TMEM126A, LMX1B, MYOC, COL4A1, CNTNAP2, TBK1, MAF, FOXE3, LTBP2, TEK, WDR36
Specificity
6 %
Genes
50 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
50 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
50 %
Familial vascular leukoencephalopathy.

By Bioarray in Spain.

COL4A1
Specificity
100 %
Genes
50 %
Hemorrhage, intracerebral, susceptibility to.

By Bioarray in Spain.

COL4A1
Specificity
100 %
Genes
50 %
Porencephaly, familial.

By LifeLabs Genetics in Canada.

COL4A1
Specificity
100 %
Genes
50 %
Familial Vascular Leukoencephalopathy, Sequencing COL4A1 Gene.

By Reference Laboratory Genetics in Spain.

COL4A1
Specificity
100 %
Genes
50 %
Hereditary Angiopathy with Nephropathy-Aneurysms and Muscle Cramps (HANAC),Sequencing Exons (24-25) COL4A1 Gene.

By Reference Laboratory Genetics in Spain.

COL4A1
Specificity
100 %
Genes
50 %
Porencephaly Type 1 , Sequencing COL4A1 Gene.

By Reference Laboratory Genetics in Spain.

COL4A1
Specificity
100 %
Genes
50 %
Schizencephaly , Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

SHH, COL4A1, EMX2, SIX3
Specificity
25 %
Genes
50 %
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes.

By Reference Laboratory Genetics in Spain.

TUBB3, TUBA1A, ARX, FOXG1, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, LARGE1, ASPM, COL4A1, ARFGEF2, DCX, NDE1, RELN, TUBA8 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
50 %

Alternate names

Porencephaly 1; Poren1 Is also known as hemiplegia, infantile, with porencephaly porencephaly, type 1;t1p, porencephaly, type 1, autosomal dominant;adt1p;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like XANTHINURIA, TYPE II; XAN2 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

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