WebGeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, ... Review CASK Disorders. [GeneReviews(®). 1993] Review CASK Disorders. Moog U, Kutsche K. GeneReviews(®). 1993. Review RPS6KA3-Related Intellectual Disability. WebImported from GeneReviews CASK disorders include a spectrum of phenotypes in both females and males. Two main types of clinical presentation are seen: Microcephaly with pontine and cerebellar hypoplasia (MICPCH), generally associated with pathogenic loss-of-function variants in CASK.

CASK Disorders - PubMed

WebJul 18, 2024 · Opitz G/BBB Syndrome Panel. GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. WebMolecular Genetic Testing Used in CASK Disorders 1. See Table A. Genes and Databases for chromosome locus and protein. 2. See Molecular Genetics for information on allelic variants detected in this gene. 3. Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. high fiber cereal with no sugar

Disorders of GNAS Inactivation - GeneReviews® - NCBI …

WebDescription Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. WebGenetics [ edit] Most mutations that cause FG syndrome can be found in the MED12 gene. However, mutations have also been found in FMR1, FLNA, UPF3B, CASK, MECP2 and ATRX genes. [4] Mutations on these … WebThe CASK gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve … how high is the highest mountain on earth