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Newborns main panel

Gene: EFL1

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34115847 - 3 cases. PMID: 28331068 - 3 families PMID: 29970384 - 1 case PMID: 31151987 - 3 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Shwachman-Diamond syndrome 2
OMIM
617538
Clinvar variants
Variants in EFL1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Shwachman-Diamond syndrome 2 for gene: EFL1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Shwachman-Diamond syndrome 2 for gene: EFL1

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Shwachman-Diamond syndrome 2 for gene: EFL1

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to EFL1. Added phenotypes Shwachman-Diamond syndrome 2 for gene: EFL1 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Shwachman-Diamond syndrome 2 for gene: EFL1

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: EFL1 was added gene: EFL1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal