Gene of the Month – December: WAPL

WAPL encodes the cohesin release factor WAPL. Cohesin, a ring-shaped protein complex of several subunits, plays an essential role in maintaining sister chromatid cohesion for example during DNA [...]

Gene of the Month – November: CLCN6

A point mutation in CLCN6 has been identified as the genetic cause of a severe, lysosomal neurodegenerative disorder. Researchers from Germany, Italy and the United States detected the identical [...]

Gene of the Month – October: SUFU

Heterozygous truncating variants of the SUFU negative regulator of hedgehog signaling (SUFU) gene cause congenital oculomotor apraxia (COMA), a rare eye movement disorder. Patients with this [...]

Gene of the Month – September: LMNB1

LMNB1 is a gene that plays an important role in maintaining nuclear envelope stability and in regulating gene expression and is thereby also involved in nervous system development, among other [...]

Gene of the Month – August: DDX11

New insights into the importance of DDX11 for genomic integrity and cell vitality have been reported in a study published in Nature Communications. DDX11 is a DNA helicase and fulfils essential [...]

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. [...]