CASK gene disorders
CASK gene mutations cause two named disorders, MICPCH and XL-ID with or without nystagmus. In addition, males often have mosaicism, leading to differing phenotypes. Read on for FAQs and an overview of the conditions.
CASK Gene for Beginners
Don't know your protein from your gene? Bamboozled by your genetics reports? Learn what the CASK gene is, why the condition is different in boys and girls, and what the different mutations mean.
Guide to genetics →
What are the symptoms?
Symptoms of CASK-related disorders may be physical, cognitive, behavioural or emotional.
Symptoms →
Diagnosis and testing
Diagnosing a CASK-related disorder requires genetic testing. If a child presents with microcephaly in the UK they should automatically be tested for a CASK gene mutation. MRI can detect MICPCH, but genetic testing confirms the diagnosis.
Diagnosing CASK →
Understanding your genetics report
A plain-English guide to the abbreviations, numbers and technical language found in genetic reports.
Read the guide →Many kinds of mutation, one gene
CASK mutations come in several forms — deletions, duplications, missense, nonsense, frameshift and splice-site changes — and each has a different effect on the CASK protein.
The CASK Gene for Beginners page breaks each type down in plain English, with analogies to help families and clinicians make sense of a genetics report.
