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IBMDx study

Gene: EFL1

Green List (high evidence)
EFL1 (elongation factor like GTPase 1)
EnsemblGeneIds (GRCh38): ENSG00000140598
EnsemblGeneIds (GRCh37): ENSG00000140598
OMIM: 617538, Gene2Phenotype
EFL1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six unrelated families reported, two had the same homozygous variant, one family single variant plus 'expression defect' identified.
Created: 15 Jun 2021, 10:58 a.m. | Last Modified: 15 Jun 2021, 10:58 a.m.
Panel Version: 0.243

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Shwachman-Diamond syndrome 2, MIM# 617941

Publications

Created: 15 Jun 2021, 10:58 a.m.
Last Modified: 15 Jun 2021, 10:58 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.243

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Shwachman-Diamond syndrome 2, MIM# 617941
OMIM
617538
Clinvar variants
Variants in EFL1
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EFL1 was added gene: EFL1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: EFL1 was set to Unknown Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941