COL18A1 gene related symptoms and diseases
All the information presented here about the COL18A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COL18A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Dextrocardia | Very Common - Between 80% and 100% cases |
| Acute lymphoblastic leukemia | Very Common - Between 80% and 100% cases |
| Aplasia cutis congenita | Very Common - Between 80% and 100% cases |
| Occipital encephalocele | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with COL18A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Absent septum pellucidum
- Chorioretinal atrophy
- Cortical dysplasia
- Ectopia lentis
- Vitreoretinopathy
- Pyloric stenosis
- Corneal dystrophy
- Macular degeneration
And 59 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COL18A1 gene
Here you will find a list of rare diseases related to the COL18A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
KNOBLOCH SYNDROME
Alternate names
KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele, knobloch-layer syndrome, retinal detachment-occipital encephalocele syndrome, kno
Description
Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.
Most common symptoms of KNOBLOCH SYNDROME
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Nystagmus
More info about KNOBLOCH SYNDROME
Search interest in COL18A1
Potential gene panels for COL18A1 gene
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Knobloch syndrome type 1 (sequence analysis of COL18A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COL18A1 gene.
More info about this panel Portugal.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Knobloch Syndrome, Type I via COL18A1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the COL18A1 gene.
More info about this panel United States.
Vitreoretinopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Vitreoretinopathy Comprehensive panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panel United States.
Vitreoretinopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Vitreoretinopathy Deletion / Duplication panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panel United States.
Vitreoretinopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Vitreoretinopathy NGS panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panel United States.
Knobloch syndrome 1 NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL18A1 gene.
More info about this panel United States.
Knobloch syndrome 1 Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL18A1 gene.
More info about this panel United States.
Knobloch syndrome 1 Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the COL18A1 gene.
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.
Ectopia Lentis Panel
Germany.
By MGZ Medical Genetics Center Ectopia Lentis that also includes the following genes: ADAMTS10 CBS ADAMTS17 ADAMTSL4 COL11A1 COL18A1 VCAN FBN1 ASPH
More info about this panel Germany.
COL18A1 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the COL18A1 gene.
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.
Stickler Syndrome / High Myopia Panel
Germany.
By MGZ Medical Genetics Center Stickler Syndrome / High Myopia that also includes the following genes: P3H2 COL11A1 COL18A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 VCAN FBN1
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.
Knobloch syndrome type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COL18A1 gene.
More info about this panel Germany.
Single gene testing COL18A1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the COL18A1 gene.
More info about this panel Germany.
Glaucoma Panel
Estonia.
By Asper Biogene Asper Biogene LLC Glaucoma that also includes the following genes: SLC4A4 BEST1 ACVR1 OPTN ASB10 CANT1 SBF2 COL18A1 CYP1B1 WDR36
More info about this panel Estonia.
Vitreoretinopathy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Vitreoretinopathy that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panel Estonia.
Vitreoretinopathy panel Panel
United States.
By Molecular Vision Laboratory Vitreoretinopathy panel that also includes the following genes: ATOH7 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL4A3 COL4A4 COL4A5
More info about this panel United States.
Glaucoma (Advance) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2
More info about this panel Spain.
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
More info about this panel United States.
Glaucoma NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Glaucoma NGS Panel that also includes the following genes: RPS19 SLC4A4 TTR BEST1 CA4 ACVR1 OPTN RRM2B CANT1 SBF2
More info about this panel United States.
COL18A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COL18A1 gene.
More info about this panel United States.
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
More info about this panel United States.
Retinal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel Finland.
Vitreoretinopathy Panel Panel
Finland.
By Blueprint Genetics Vitreoretinopathy Panel that also includes the following genes: RS1 BEST1 ATOH7 CAPN5 P3H2 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1
More info about this panel Finland.
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
More info about this panel Finland.
Ectopia Lentis Panel Panel
Finland.
By Blueprint Genetics Ectopia Lentis Panel that also includes the following genes: SUOX ADAMTS10 CBS ADAMTS17 AASS PORCN P3H2 ADAMTSL4 VSX2 BCOR
More info about this panel Finland.
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
More info about this panel Spain.
KNOBLOCH SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the COL18A1 gene.
More info about this panel Spain.
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