Gene of the Month

Gene of the Month – July: MAPK1

De novo variants of the MAPK1 gene have been identified as underlying a novel neurodevelopmental disorder within the clinical spectrum of rasopathies. This family of genetic disorders includes [...]

Gene of the Month – June: GP2

GP2 gene variants may be associated with an increased risk for pancreatic cancer. This is suggested by the results of a meta-analysis of three genome-wide association studies published in Nature [...]

Gene of the Month – May: FBRSL1

Mutations in the FBRSL1 gene cause a previously undescribed syndrome associated with malformations and intellectual disability. A study led by scientists of the Institute of Human Genetics at the [...]

Gene of the Month – April: TET2

Variants of the TET2 gene might be a risk factor for the development of neurodegenerative diseases. In their study published in The American Journal of Human Genetics, US researchers initially [...]

Gene of the Month – March: EPHA2

Researchers from Germany and Japan identified EPHA2 as a new gene that causes Pendred syndrome if heterozygous mutations in the gene occur in combination with mutations in the SLC26A4 gene. [...]

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