ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.
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 |
|---|---|---|
| Baraitser-Winter Cerebrofrontofacial Syndrome | causative germline |
mechanism: Dominant ACTB or ACTG1 Missense Actinopathy
subtype: BRWS1
variant: ACTB p.Arg196Cys; ACTB p.Arg196His; ACTB p.Ser348Leu; ACTB p.Thr120Ile
scoped to subtype: BRWS1
|
| Developmental Malformations-Deafness-Dystonia Syndrome | causative germline |
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 |
|---|---|---|---|
| Baraitser-Winter cerebrofrontofacial syndrome MONDO:0017579 | AD | Definitive 2021-10-26 |
|
| ACTB-associated syndromic thrombocytopenia MONDO:0100433 | AD | Moderate 2024-06-03 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.