Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Sideways curvature of the spine (scoliosis), Areflexia, and Ataxia and others; and common findings: Bilateral tonic-clonic seizure, Memory problems (memory impairment), Generalized non-motor (absence) seizure, and Atonic seizure and others. 16 total HPO annotations.

GOSR2 encodes golgi SNAP receptor complex member 2 (212 aa). Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network Highest expression in Testis (21.6 TPM) and Pituitary (20.2 TPM).

Progressive myoclonic epilepsy type 6 is associated with mutations in the GOSR2 gene on chromosome 17.

The GOSR2 protein participates in Expression of GOSR2, SEC4C,D bind GOSR2 and STX5, and BET1:GOSR2:STX5 bind v-SNARES on tethered vesicle pathways.

GOSR2 is classified as a druggable target with score 0.0.

Genetic testing for GOSR2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for progressive myoclonic epilepsy type 6.

21 publications have been identified in PubMed for progressive myoclonic epilepsy type 6. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (19%).