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 |
|---|---|---|
| Dilated Cardiomyopathy 1AA | causative |
mechanism: Alpha-Actinin-2 Z-Disc Dysfunction
|
| Distal Myopathy 6, Adult-Onset, Autosomal Dominant | untyped |
mechanism: ACTN2 pathogenic variants alter alpha-actinin-2
variant: ACTN2 Swedish-family missense variant; ACTN2 c.2504delT (p.Phe835Serfs*66); ACTN2 last-exon single-nucleotide deletions (c.2558del, c.2567del); ACTN2 p.Cys487Arg; ACTN2 p.Ile134Asn
|
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 |
|---|---|---|---|
| ACTN2-related cardiac and skeletal myopathy MONDO:0700349 | AD | Definitive 2025-07-23 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.