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 |
|---|---|---|
| Congenital Myasthenic Syndrome 7 | causative germline dominant negativeloss of function |
mechanism: Biallelic SYT2 Loss of Function; SYT2 C2B Dominant-Negative Calcium Sensor Disruption
|
| Congenital Myasthenic Syndrome |
untyped
Causal
|
mechanism: Defective SNARE-Mediated Synaptic Vesicle Fusion
scoped to subtype: Presynaptic
|
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 |
|---|---|---|---|
| congenital myasthenic syndrome 7 MONDO:0014468 | AD | Moderate 2023-07-12 |
Congenital Myasthenic Syndrome 7
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.