Metaphyseal dysplasias

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • SDS2
  • 617941 SHWACHMAN-DIAMOND SYNDROME 2
OMIM
617538
Clinvar variants
Variants in EFL1
Penetrance
None
Panels with this gene

History Filter Activity

26 May 2020, Gel status: 3

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: EFL1 was added gene: EFL1 was added to Metaphyseal dysplasias. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EFL1 were set to SDS2; 617941 SHWACHMAN-DIAMOND SYNDROME 2