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 |
|---|---|---|
| Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome | causative de novo |
mechanism: Disrupted Optic Cup and Fissure Morphogenesis; MAB21L2 p.Arg51Cys Substitution
|
| Isolated Anophthalmia-Microphthalmia Syndrome | causative |
mechanism: Eye Field Transcription Factor Network Dosage Loss
|
| Microphthalmia with Coloboma |
untyped
Causal coding and non-coding regulatory variant
|
mechanism: Disrupted optic-cup and globe morphogenesis; Non-coding regulatory variant pathogenesis
subtype: MAB21L2-MAC
scoped to subtype: MAB21L2-MAC
|
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 |
|---|---|---|---|
| colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:0014380 | AD | Definitive 2023-07-25 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.