Col7a1 gene variants database software

A database of osteogenesis imperfecta and ehlers danlos. Identification of variants in genes associated with single. Wertheimtysarowska k1, sobczynskatomaszewska a, kowalewski c, skronski m,swieckowski g, kutkowskakazmierczak a, wozniak k, bal j. Col17a1 collagen type xvii alpha 1 chain is a protein coding gene. The disease is caused by mutations affecting the gene represented in this entry. The col7a1 gene provides instructions for making proteins that are used to assemble type vii collagen. Col1a1 homepage osteogenesis imperfecta variant database. For missense variants, in silico variant prediction tools such as sift, polyphen, mutationtaster are used to assist with variant classification. A gene gunmediated nonviral rna transsplicing strategy. Once logged in, localize new variant in the gene by clicking on the appropriate exonintron. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. Using a genetic modelling approach, we use whole exome and genome sequencing data to estimate the allele frequency of recessive pathogenic variants in the col7a1 gene.

Col7a1 gene cdna orf clone, homo sapienshuman genscript. Twenty candidate causal variants were splice site mutations or resided in protein coding regions of the genome see additional file 1, among these, a nonsense mutation in the col7a1 gene. The col7a1 gene provides instructions for making a protein called pro. Col3a1 homepage ehlers danlos syndrome variant database. Col7a1 collagen type vii alpha 1 chain gene gtr ncbi. Col17a1 gene human genes gene database gene search. Full text from clinical phenotype to genotypic modelling. A nonsense mutation in the col7a1 gene causes epidermolysis bullosa in vorderwald cattle. Through the clinvar and ncbi database of human genome variants and phenotypes, deb register, and analyzing premature col7a1 termination variants we built a model to predict the pathogenicity of. Blueprint genetics col7a1 single gene test col7a1 single gene test. Cloning of the human type xvii collagen gene col17a1. Col7a1 mutation database provides a registry for clinicians, genetic counselors, and researchers about dystrophic epidermolysis bullosa deb patients and their associated col7a1 mutations.

The deb register is a joint initiative of the international dystrophic epidermolysis bullosa patient registry and the col7a1 gene variant database aimed at creating one strong international register for all deb patients and their col7a1 mutations. Col7a1, encoding type vii collagen, has been identified as the candidate. Clinvar and hgmd into our clinical interpretation software to make the process effective and efficient. Custom cloning services gene synthesis, subcloning, mutagenesis, variant library. The type vii collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous.

In particular, type vii collagen plays an essential role in strengthening and stabilizing the skin. Highly efficient and safe approaches for precise correction of pathogenic mutations are required to realize the full potential of geneediting protocols for clinical practice. Diseases associated with col17a1 include epithelial recurrent erosion dystrophy and epidermolysis bullosa, junctional, non. About dystrophic epidermolysis bullosa and the col7a1 gene. We now have cloned the entire human type xvii collagen gene col17a1 and have. Dystrophic epidermolysis bullosa deb, a heterogeneous hereditary skin disorder characterized by traumainduced blistering and scarring, affects thousands of families worldwide. Col7a1 collagen alpha1vii chain precursor homo sapiens. This is a work in progress and new updates and functionalities will be implemented on a regular basis. In summary, screening the col7a1 gene is useful in understanding the different clinical variants of deb and essential to prenatal diagnosis.

Software update a few software issues have been solved. Numerous studies underline that both forms are caused by mutations of the col7a1 gene. Unique variants in gene col7a1 global variome shared lovd. Both original and extracted data from published papers are accumulated in this database. This gene encodes the alpha chain of type vii collagen. Col7a1 gene genecards co7a1 protein co7a1 antibody. Search aliases for col7a1 gene in pubmed and other databases. The establishment of this gene variant database lsdb was supported by the european communitys seventh framework programme fp7200720 under grant agreement n. Provides a registry for clinicians, genetic counselors, and researchers about dystrophic epidermolysis bullosa deb patients and their associated col7a1. Arg1588x in the col7a1 gene that segregates with the disease. Disease description a bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Therefore, efficient col7a1 mutation detection is urgently needed for precise diagnosis, prognostication, genetic counseling and reliable prenatal diagnosis, and, importantly, for identification of suitable. Patient registry and the col7a1 gene variant database. Col5a1 homepage ehlers danlos syndrome variant database.

The aim of this col7a1 gene mutations database is to collect mutations related to epidermolysis. Notes, the establishment of this gene variant database lsdb was supported by. Collagens are a family of proteins that strengthen and support connective tissues. The first major practical improvement upon the provision of human hemoglobin variant data in purely printed form was the reproduction of these same data in the. Col22a1 collagen type xxii alpha 1 chain is a protein coding gene. Complete information for col7a1 gene protein coding, collagen type vii alpha 1. Genetic testing for congenital epidermolysis bullosa. A novel col7a1 gene mutation in an iranian individual. Mutation search we have prepared a basic and advanced mutation search form for users. Col7a1 gene mutations database addresses professionals and nonprofessionals who are dealing with ebd disease on a clinical, diagnostic, research level. Inheritance refers to inheritance patterns such as autosomal dominant ad, autosomal recessive ar, mitochondrial mi, xlinked xl, xlinked. The following col7a1 gene cdna orf clone sequences were retrieved from the ncbi reference sequence database refseq.

Such variants occur in the bmp1, col1a1, col1a2, creb3l1, crtap, fkbp10, ifitm5. Through our online ordering and statement reporting system, nucleus, ordering providers have access to the details of the analysis, including patient specific sequencing metrics, a gene level coverage. The establishment of this gene variant database lsdb was supported by the european communitys seventh framework programme. Genetic variants listed may or may not have a causal association with disease phenotypes, irrespective of stated classifications or other information presented in the database. A nonsense mutation in the col7a1 gene causes epidermolysis. Genedx 207 perry parkway gaithersburg, md 20877 toll free. Deb is caused by mutations in the col7a1 gene encoding collagen vii in the skin. Greenspan 1993 described the cterminal half of type vii collagen and the intronexon organization of the corresponding region of the col7a1 gene. Dystrophic epidermolysis bullosa deb is a family of inherited mechanobullous disorders caused by mutations in the human type vii collagen gene transduction. Previous findings have suggested that type xvii collagen is the candidate gene for mutations in this disease. Col7a1 gene variants database graphic view of mutation. The deb register is a joint initiative of the international dystrophic epidermolysis bullosa patient registry and the col7a1 gene variant database aimed at creating one.

The information provided may be of special value for eb specialists if clinical consequences of a newly identified mutation need to be interpreted. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone. Wertheimtysarowska k1, sobczynskatomaszewska a, kowalewski c, skronski m, swieckowski g, kutkowskakazmierczak a, wozniak k, bal j. Dystrophic epidermolysis bullosa deb is a genetic disease caused by mutations in the col7a1 gene that is inherited. Epidermolysis bullosa, dystrophic col7a1 genedx genedx. The human gene col7a1, with a transcript size of 8. The number of times this variant has been reported in the database. Col1a2 homepage osteogenesis imperfecta variant database. Mutation analysis and characterization of col7a1 mutations. Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sublamina densa blistering, erosions, and chronic ulcers. Col7a1 collagen type vii alpha 1 chain homo sapiens human. Previously unreported col7a1 mutation in a somali patient with. All transcript variants in gene col7a1 global variome.