EFL1 Chromosome 15
Elongation factor like GTPase 1
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What This Gene Does
Enables GTPase activity and ribosome binding activity. Involved in GTP metabolic process and cytosolic ribosome assembly. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytosol. Implicated in Shwachman-Diamond syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Ribosomal biogenesis factors|Translational GTPases"
Locus Type
gene with protein product
Location
15q25.2
Ensembl
ENSG00000140598
Associated Conditions (3)
Shwachman-Diamond syndrome 2
Shwachman syndrome
Inborn genetic diseases
Key Variants
RS1441937959
Conflicting classifications of pathogenicity
Shwachman-Diamond syndrome 2, Shwachman syndrome, Shwachman-Diamond syndrome 2
Health Risk
RS181043208
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201851277
Conflicting classifications of pathogenicity
Health Risk
RS2141235535
Conflicting classifications of pathogenicity
Inborn genetic diseases, Shwachman syndrome, Inborn genetic diseases
Health Risk
RS376095522
Conflicting classifications of pathogenicity
Shwachman-Diamond syndrome 2, Shwachman syndrome, Shwachman-Diamond syndrome 2
Health Risk
RS376776701
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS756494164
Conflicting classifications of pathogenicity
Shwachman-Diamond syndrome 2, Shwachman syndrome, Shwachman-Diamond syndrome 2
Health Risk
RS1330065864
Likely pathogenic
Shwachman-Diamond syndrome 2, Shwachman syndrome, Shwachman-Diamond syndrome 2
Health Risk
RS370108445
Likely pathogenic
Shwachman-Diamond syndrome 2, Shwachman syndrome, Shwachman-Diamond syndrome 2
Health Risk
RS763132789
Likely pathogenic
Shwachman-Diamond syndrome 2, Shwachman syndrome, Shwachman-Diamond syndrome 2
Health Risk
RS1380341628
Pathogenic
Shwachman-Diamond syndrome 2, Shwachman-Diamond syndrome 2
Health Risk
RS2141228362
Pathogenic
Shwachman-Diamond syndrome 2, Shwachman-Diamond syndrome 2
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1441937959 | Health Risk | Conflicting classifications of pathogenicity | Shwachman-Diamond syndrome 2, Shwachman syndrome, Shwachman-Diamond syndrome 2 |
| RS181043208 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201851277 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2141235535 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Shwachman syndrome, Inborn genetic diseases |
| RS376095522 | Health Risk | Conflicting classifications of pathogenicity | Shwachman-Diamond syndrome 2, Shwachman syndrome, Shwachman-Diamond syndrome 2 |
| RS376776701 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756494164 | Health Risk | Conflicting classifications of pathogenicity | Shwachman-Diamond syndrome 2, Shwachman syndrome, Shwachman-Diamond syndrome 2 |
| RS1330065864 | Health Risk | Likely pathogenic | Shwachman-Diamond syndrome 2, Shwachman syndrome, Shwachman-Diamond syndrome 2 |
| RS370108445 | Health Risk | Likely pathogenic | Shwachman-Diamond syndrome 2, Shwachman syndrome, Shwachman-Diamond syndrome 2 |
| RS763132789 | Health Risk | Likely pathogenic | Shwachman-Diamond syndrome 2, Shwachman syndrome, Shwachman-Diamond syndrome 2 |
| RS1380341628 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 2, Shwachman-Diamond syndrome 2 |
| RS2141228362 | Health Risk | Pathogenic | Shwachman-Diamond syndrome 2, Shwachman-Diamond syndrome 2 |