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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… managing the symptoms of the disease. Defect in Hex-A Gene Causes Tay-Sachs: Tay-Sachs disease results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A. We all have two copies of this gene. If either or both Hex-A genes are active, the body …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… autosomal recessive trait (a person must get the defective gene from both parents to be affected). There are several … are present, diagnosis can be made by genetic testing. Gene alterations (mutations) in the SMN1 and VAPB genes cause SMA. Having extra copies of the SMN2 gene can modify the course of SMA. Genetic testing on a blood …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… this test, a blood sample is taken to identify the altered gene (mutation) within the chromosomes which are contained within the white blood cells. Gene alterations in two genes - CNBP and DMPK - cause … dystrophy Type 1 is caused by a mutation in the DMPK gene. Type 2 myotonic dystrophy is caused by a mutation in …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… to children by parents who carry the mutated thalassemia gene. A child who inherits one mutated gene is a carrier, which is sometimes called "thalassemia … death. A child who inherits two copies of the mutated gene for beta thalassemia will have beta thalassemia disease. …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… OI type VII is caused by recessive mutations in the CRTAP gene. … Osteogenesis imperfecta (OI) causes bones to be … COL1A1 and COL1A2 is used to identify the type I collagen gene mutation responsible for the altered collagen protein. … egg or sperm or very early embryo in the COL1A1 or COL1A2 gene. In the milder forms of OI, 25-30 percent of cases occur …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… cancer, diabetes, heart disease and joint disease. The gene that causes hereditary hemochromatosis, called HFE, was … Most cases of HH result from a common mutation in this gene, known as C282Y. But other mutations that cause this … as H63D. A child who inherits two copies of a mutated gene (one from each parent) is highly likely to develop the …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… (CT scan) and blood tests to detect defects in the NF1 gene. For NF2, doctors will pay close attention to hearing … of the disorder, but do not yet have the symptoms. Still, gene tests have no way of predicting the severity of NF1 or NF2. Genetic testing is performed by either direct gene mutation analysis and/or linkage analysis. Mutation …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… disease is caused by changes (mutations) in a single gene called GBA . Mutations in the GBA gene cause very low levels of glucocerebrosidase. A person … who has Gaucher disease inherits a mutated copy of the GBA gene from each of his/her parents. Gaucher disease occurs in …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene. Since each parent also has a normal gene, they do not show signs or symptoms of PKU. Gene …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… or phosphorous. The enzyme is coded for by the FMO3 gene. Trimethylaminuria may be caused by a variety of genetic changes to the FMO3 gene. Not all of the functions of the FMO3 enzyme are known, … in other words, they both carry one copy of an altered gene for FMO3. Since this condition usually requires two …