COG7 gene related symptoms and diseases
All the information presented here about the COG7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COG7 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Delayed myelination | Very Common - Between 80% and 100% cases |
Proteinuria | Very Common - Between 80% and 100% cases |
Hypertrophic cardiomyopathy | Very Common - Between 80% and 100% cases |
Abnormality of the pinna | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with COG7 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the liver
- Arthrogryposis multiplex congenita
- Flat face
- Thick vermilion border
- Polyneuropathy
- Dehydration
- Hepatosplenomegaly
- Cholestasis
And 33 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COG7 gene
Here you will find a list of rare diseases related to the COG7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COG7-CDG
Alternate names
COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie, congenital disorder of glycosylation type 2e, cdg iie, cdg syndrome type iie, cdg2e, congenital disorder of glycosylation type iie, cdg-iie, cdgiie
Description
COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.
Most common symptoms of COG7-CDG
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Growth delay
More info about COG7-CDG
Search interest in COG7
Potential gene panels for COG7 gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelCongenital Disorders of Glycosylation Panel Panel
By Baylor Miraca Genetics Laboratories Congenital Disorders of Glycosylation Panel that also includes the following genes: SLC35A1 ALG9 ALG1 ATP6V0A2 COG7 COG8 ALG12 SLC35C1 ALG3 ALG6
More info about this panelCongenital Disorders of Glycosylation Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Disorders of Glycosylation that also includes the following genes: SLC35A1 COG5 ALG9 ALG1 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12
More info about this panelGlycosylation disorder type IIe (sequence analysis of COG7 gene) Panel
By CGC Genetics
This panel specifically test the COG7 gene.
More info about this panelCongenital disorders of glycosylation (NGS panel for 39 genes) Panel
By CGC Genetics Congenital disorders of glycosylation (NGS panel for 39 genes) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 COG4 COG6 COG7
More info about this panelCongenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4
More info about this panelMental retardation - different panels Panel
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 panelCongenital Disorders of Glycosylation (CDG) Panel
By MGZ Medical Genetics Center Congenital Disorders of Glycosylation (CDG) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8
More info about this panelGlycosylation disorder type 2E Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the COG7 gene.
More info about this panelGlycosylation disorder type 2E Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the COG7 gene.
More info about this panelAllNeuro panel Panel
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 panelGlycosylation disorder type 2E Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the COG7 gene.
More info about this panelCongenital Disorders of Glycosylation (CDG) Panel Panel
By CeGaT GmbH Congenital Disorders of Glycosylation (CDG) Panel that also includes the following genes: SLC35A1 SLC35A2 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8 ALG12
More info about this panelCongenital Disorders of Glycosylation (CDG) Panel Panel
By CeGaT GmbH Congenital Disorders of Glycosylation (CDG) Panel that also includes the following genes: SLC35A1 SLC35A2 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8 ALG12
More info about this panelSingle gene testing COG7 Panel
By CeGaT GmbH
This panel specifically test the COG7 gene.
More info about this panelCOG7 mutational analysis Panel
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the COG7 gene.
More info about this panelCutis laxa gene panel Panel
By Connective Tissue Laboratory Ghent University Hospital Cutis laxa gene panel that also includes the following genes: TALDO1 ATP6V0A2 COG7 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1
More info about this panelInvitae Congenital Disorders of Glycosylation Panel Panel
By Invitae Invitae Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 TRIP11 COG5 ALG9 NGLY1 ALG1 ATP6V0A2
More info about this panelCongenital disorder of multiple glycosylation (CDG) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of multiple glycosylation (CDG) that also includes the following genes: SEC23B SLC35A1 COG5 ALG9 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12
More info about this panelCongenital Disorder of Glycosylation IIe: COG7 Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the COG7 gene.
More info about this panelCongenital Disorder of Glycosylation IIe: COG7 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the COG7 gene.
More info about this panelCongenital Disorders of Glycosylation: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panelCongenital Disorders of Glycosylation: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panelCongenital Disorders of Glycosylation NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Congenital Disorders of Glycosylation NGS Panel that also includes the following genes: RPN2 SEC23B SLC35A1 COG5 ALG9 ALG1 ATP6V0A2 COG4 COG6 COG7
More info about this panelEpilepsy NGS Panel Panel
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 panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelCOG7 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COG7 gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
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 panelCongenital Disorders of Glycosylation Panel Panel
By Blueprint Genetics Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 ATP6V0A2 COG4
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelCongenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes Panel
By Reference Laboratory Genetics Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SEC23B COG5 ALG9 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12 SLC35C1
More info about this panelAutosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes Panel
By Reference Laboratory Genetics Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TALDO1 ATP6V0A2 COG7 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A
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