Category: Genetics

All about genetic conditions, genes, chromosomes, and more!

SLC26A4 gene

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The SLC26A4 gene, also known as the Pendred syndrome gene, is a gene that is needed for proper functioning of the thyroid gland. This gene is associated with Pendred syndrome, a congenital disorder characterized by…

Smith-Lemli-Opitz syndrome

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Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition that affects the development and function of many parts of the body. It is caused by mutations in the DHCR7 gene. This gene provides instructions for making…

Mosaic variegated aneuploidy syndrome

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Mosaic variegated aneuploidy syndrome (MVAS) is a rare genetic condition characterized by abnormal chromosome sorting and the presence of aneuploid cells in various tissues. MVAS can cause a variety of clinical features, including growth retardation,…

Oculofaciocardiodental syndrome

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The Oculofaciocardiodental syndrome (OFCD) is a rare genetic condition that affects multiple body systems. It is also known as Radiculomegaly syndrome, Cardiodental syndrome, or Mohr syndrome. OFCD is characterized by the presence of several abnormalities,…

AGXT gene

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The AGXT gene, also known as alanine-glyoxylate aminotransferase gene, is an essential gene responsible for the synthesis of the alanine-glyoxylate aminotransferase enzyme. This enzyme plays a crucial role in the metabolism of glyoxylate, an intermediate…

Pseudohypoaldosteronism type 1

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Pseudohypoaldosteronism type 1 is a rare genetic condition that causes a loss of functioning in certain specialized cells in the skin, blood, and other tissues. This condition is associated with high levels of potassium in…

COL5A2 gene

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COL5A2 gene The COL5A2 gene provides instructions for making a protein called alpha-2 chain of type V collagen. This protein is found in connective tissues throughout the body, including skin, bone, tendon, and blood vessels.…

PAFAH1B1 gene

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PAFAH1B1 gene The PAFAH1B1 gene, also known as LIS1, is a genetic sequence that plays an important role in the development and function of the human brain. Mutations or changes in this gene can cause…

DOK7 gene

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The DOK7 gene is a genetic variation that has been identified as being related to congenital myasthenic syndrome. This scientific finding has important implications for understanding and diagnosing this rare disease. The DOK7 gene is…

What are the uses of genetic testing

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Genetic testing refers to a variety of tests that can be done to analyze a person’s DNA and identify any abnormalities or mutations in their genes. These tests can be used for a range of…