Aliases: OS, FXY, TRIM18, RNF59.
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 |
|---|---|---|
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome | cooperating | |
| Opitz G/BBB syndrome |
untyped
Causative
|
mechanism: MID1 RING-domain isoform loss causes brain-patterning defects; MID1 loss of function disrupts midline developmental patterning
diagnosis: MID1 molecular genetic testing
|
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 Opitz G/BBB syndrome MONDO:0010222 | XL | Definitive 2026-08-05 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.