Previous symbols: EFTUD1. Aliases: FLJ13119, FAM42A, HsT19294, RIA1.
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 |
|---|---|---|
| EFL1-related Shwachman-Diamond syndrome |
untyped
Causal biallelic variant
|
mechanism: Bone marrow-specific somatic UPD and partial EFL1 clonal rescue; Defective EFL1-mediated EIF6 release during ribosomal large subunit maturation
diagnosis: Molecular genetic testing and SDS gene differential diagnosis
|
| Shwachman-Diamond syndrome |
untyped
Causal biallelic variant
|
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 |
|---|---|---|---|
| Shwachman-Diamond syndrome 2 MONDO:0044205 | AR | Definitive 2026-02-10 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.