Clinical Utility Gene Card Update

Name of the disease (synonyms)

Fabry disease, Anderson-Fabry disease.

OMIM# of the disease

301500.

Name of the analysed gene(s) or DNA/chromosome segments

Alpha-galactosidase A, GLA.

OMIM# of the gene(s)

300644.

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the GLA gene in diagnostic, predictive and prenatal settings for Fabry disease and for risk assessment in patients’ relatives.

1. Name of the disease (synonyms)

Acrodermatitis enteropathica (AEZ).

2. OMIM# of the disease

201100.

3. Name of the analyzed genes or DNA/chromosome segments

SLC39A4.

4. OMIM# of the gene(s)

607059.

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the SLC39A4 gene in diagnostic settings and for risk assessment in relatives.

1. Name of the Disease (Synonyms):

CHARGE syndrome (CHARGE association, Hall–Hittner syndrome)

2. OMIM# of the Disease:

214800

3. Name of the Analyzed Genes or DNA/Chromosome Segments:

CHD7

4. OMIM# of the Gene(s):

608892

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the CHD7 gene(s) in diagnostic and prenatal settings and for risk assessment in relatives.