Previous symbols: TNRC8. Aliases: LIN2, CAGH39, FGS4.
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 |
|---|---|---|
| FG Syndrome 4 | causative germline |
mechanism: CASK Hypomorphic Altered-Function Variant
variant: CASK c.2521-2A>G (exon 26 skipping); CASK p.Arg28Leu (c.83G>T)
|
| MICPCH Syndrome | causative de novo |
mechanism: CASK Loss of Function; Splice-Dependent Regional Specialisation of CASK Function
animal model: Mouse
|
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 |
|---|---|---|---|
| X-linked syndromic intellectual disability MONDO:0020119 | XL | Definitive 2019-07-09 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.