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 2D |
untyped
Biallelic RPL3L variants are reported in CMD2D. The evidence rests on about 13 published families (16-17 patients), with segregation in several multiplex sibships, recurrent hotspot alleles across unrelated families, and functional data from one explanted heart and engineered AC16 cells. ClinGen rates the recessive pair Moderate under the broader dilated cardiomyopathy term (MONDO:0005021). The 2026 expert-panel "high evidence" category includes Moderate, so it does not imply Definitive or Strong.
germline
gain of functionloss of function
|
mechanism: Biallelic RPL3L Variants; Hotspot RPL3L Toxic Gain of Function; Loss of RPL3L Function from Non-hotspot Alleles
|
| 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, 2D MONDO:0030300 | AR | Moderate 2026-03-04 |
Cardiomyopathy Dilated 2D
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.