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Skeletal dysplasia

Gene: ETF1

Red List (low evidence)

ETF1 (eukaryotic translation termination factor 1)
EnsemblGeneIds (GRCh38): ENSG00000120705
EnsemblGeneIds (GRCh37): ENSG00000120705
OMIM: 600285, Gene2Phenotype
ETF1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Cannot find evidence for Mendelian gene-disease association.
Created: 14 Jul 2020, midnight | Last Modified: 14 Jul 2020, midnight
Panel Version: 0.3312

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert Review Red
  • Victorian Clinical Genetics Services
OMIM
600285
Clinvar variants
Variants in ETF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ETF1 was added gene: ETF1 was added to Skeletal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: ETF1 was set to Unknown Publications for gene: ETF1 were set to 19631775