Genetic Epilepsy

Gene: EPG5

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). This gene is involved in autophagy, an intracellular pathway that deliver cytosolic cargo to lysosomes for degradation. Congenital disorders of autophagy are a class of inborn errors of neuro-metabolism.
Sources: NHS GMS

Created: 4 Feb 2021, 12:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vici syndrome MIM#242840; Congenital disorders of autophagy

Publications

• 23222957
• 26715604

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. Well established gene disease association, over 50 families reported. Approx 2/3 have a seizure disorder.

Created: 14 Oct 2020, 10:14 a.m. | Last Modified: 14 Oct 2020, 10:14 a.m.

Panel Version: 0.876

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vici syndrome, MIM# 242840

Publications

• 23222957
• 26917586