Previous symbols: ICCA, DYT10. Aliases: FLJ25513, DKFZp547J199, IFITMD1, FICCA, DSPB3, PKC, EKD1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| 16p11.2 Deletion Syndrome | risk factor |
mechanism: PRRT2 Dosage Reduction
|
| Benign Familial Infantile Epilepsy | causative |
mechanism: PRRT2 Loss-of-Function and Impaired Synaptic Vesicle Release; PRRT2-Deficient Network Hyperexcitability; Pleiotropic PRRT2 Effects Across Cortex and Basal Ganglia
subtype: ICCA; PRRT2-related BFIE
dataset: PMID:38160512
discussion: (unnamed)
scoped to subtype: PRRT2-related BFIE
|
| Familial Hemiplegic Migraine | causative germline | |
| Paroxysmal Dyskinesia | causative germline |
mechanism: Age-Dependent PRRT2 Phenotype Shift from Infantile Seizures to Kinesigenic Dyskinesia; PRRT2 and TMEM151A Loss of Function
subtype: ICCA; PKD
scoped to subtype: PKD
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| infantile convulsions and choreoathetosis MONDO:0011178 | AD | Definitive 2020-01-21 |
Benign Familial Infantile Epilepsy
causative
Paroxysmal Dyskinesia
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.