Previous symbols: DFN6. Aliases: DFNX4, Chisel, Csl.
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 |
|---|---|---|
| X-linked Nonsyndromic Hearing Loss | causative |
mechanism: SMPX-related hair-cell mechanotransduction defect
subtype: DFNX4
scoped to subtype: DFNX4
|
| Distal Myopathy 7, Adult-Onset, X-Linked |
untyped
Missense, gain-of-function
germline
gain of function
|
mechanism: SMPX missense variant with increased aggregation propensity
variant: SMPX c.19C>A p.Pro7Thr; SMPX c.233G>A p.Ser78Asn; SMPX c.38C>T p.Ala13Val; SMPX c.79C>G p.Pro27Ala
|
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 |
|---|---|---|---|
| nonsyndromic genetic hearing loss MONDO:0019497 | XL | Definitive 2017-09-12 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.