DDG2P
Gene: EFL1

EFL1 (elongation factor like GTPase 1)
EnsemblGeneIds (GRCh38): ENSG00000140598
EnsemblGeneIds (GRCh37): ENSG00000140598
OMIM: 617538, Gene2Phenotype
EFL1 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for EFL1-related Shwachman-Diamond syndrome are strong, biallelic_autosomal and loss of function (PMIDs: 28331068, 29970384, 31151987). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03761.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EFL1-related Shwachman-Diamond syndrome; MONDO:0044205; OMIM:617941.0

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MONDO:0044205
OMIM:617941.0
EFL1-related Shwachman-Diamond syndrome

OMIM

617538

Clinvar variants

Variants in EFL1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: EFL1 was added gene: EFL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFL1 were set to 31151987; 29970384; 28331068 Phenotypes for gene: EFL1 were set to MONDO:0044205; OMIM:617941.0; EFL1-related Shwachman-Diamond syndrome

DDG2P Gene: EFL1