Genes in panel
STRs in panel
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COVID-19 research

Gene: EFL1

Green List (high evidence)

EFL1 (elongation factor like GTPase 1)
EnsemblGeneIds (GRCh38): ENSG00000140598
EnsemblGeneIds (GRCh37): ENSG00000140598
OMIM: 617538, Gene2Phenotype
EFL1 is in 4 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

IUIS gene
Created: 27 Apr 2020, 12:13 p.m. | Last Modified: 27 Apr 2020, 12:13 p.m.
Panel Version: 0.163

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: categorised under the Congenital neutropenias section. Inheritance: AR. Affects N + HSC, which affects neutrophil maturation, chemotaxis, ribosomal biogenesis. The associated features are pancytopenia, exocrine pancreatic insufficiency.
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital defects of phagocyte number or function; Congenital neutropenias; Shwachman-Diamond Syndrome, 617941

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Green
Phenotypes
  • Congenital neutropenias
  • Congenital defects of phagocyte number or function
  • Shwachman-Diamond Syndrome, 617941
OMIM
617538
Clinvar variants
Variants in EFL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: EFL1 was added gene: EFL1 was added to Viral susceptibility. Sources: Expert Review Green,IUIS Classification December 2019 Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFL1 were set to 32086639; 32048120 Phenotypes for gene: EFL1 were set to Congenital neutropenias; Congenital defects of phagocyte number or function; Shwachman-Diamond Syndrome, 617941