Aliases: CLC2, EJM6, ClC-2.
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 |
|---|---|---|
| CLCN2-Related Leukoencephalopathy | causative germline loss of function |
mechanism: Biallelic Loss-of-Function CLCN2 Variants; Loss of ClC-2 from the Panglial Syncytium; Reduced ClC-2 Channel Function and Surface Expression; Retinal Pigment Epithelial ClC-2 Loss and Chorioretinal Degeneration; Sertoli Cell ClC-2 Loss and Testicular Degeneration
|
| Epilepsy with Generalized Tonic-Clonic Seizures Alone | susceptibility | |
| familial hyperaldosteronism | causative germline |
mechanism: CLCN2 gain-of-function channel opening
subtype: Type II
scoped to subtype: Type II
|
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.
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.