progressive myoclonic epilepsy type 6
Findings
No curated finding names progressive myoclonic epilepsy type 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013526), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AreflexiaHPOHP:0001284
- 6 of 6 reported patients
- AtaxiaHPOHP:0001251
- 6 of 6 reported patients · Childhood onset
- Elevated circulating creatine kinase activityHPOHP:0003236
- 6 of 6 reported patients
- Loss of ambulationHPOHP:0002505
- 6 of 6 reported patients · Juvenile onset
- MyoclonusHPOHP:0001336
- 6 of 6 reported patients
- ScoliosisHPOHP:0002650
- 6 of 6 reported patients
- EEG with spike-wave complexesHPO
Show the remaining 3
- Myoclonic status epilepticusHPOHP:0032667
- 1 of 6 reported patients
- Pes cavusHPOHP:0001761
- 1 of 6 reported patients
- Gait disturbanceHPOHP:0001288
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GOSR2HGNC:4431
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
9 names
Resolves to: progressive myoclonic epilepsy type 6
- Also called
- epilepsy, progressive myoclonic 6epilepsy, progressive myoclonic, type 6EPM6GOSR2 progressive myoclonic epilepsyGOSR2-related progressive myoclonus ataxiaNorth Sea progressive myoclonus epilepsyPME type 6progressive myoclonic epilepsy caused by mutation in GOSR2progressive myoclonus epilepsy type 6