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 |
|---|---|---|
| Cardiomyopathy Dilated 2F |
untyped
Autosomal recessive DCM gene supported by about seven families: four Japanese families (five homozygous patients) in the founding report, two unrelated compound-heterozygous Japanese patients known here only from a secondhand summary, and one consanguineous Middle Eastern family with three affected genotyped siblings. Two recurrent nonsense alleles (p.Arg197Ter, p.Arg390Ter) appear in several Japanese families.
germline
loss of function
|
mechanism: Biallelic BAG5 Truncating Variants; Impaired HSC70 Nucleotide Exchange and Protein Refolding; Loss of BAG5 Protein
|
| Dilated Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Cardiomyocyte Proteostasis Failure
|
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 |
|---|---|---|---|
| cardiomyopathy, dilated, 2F MONDO:0030680 | AR | Moderate 2026-03-04 |
Cardiomyopathy Dilated 2F
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.