Unexplained kidney failure in young people
Gene: MYO1E

MYO1E (myosin IE)
EnsemblGeneIds (GRCh38): ENSG00000157483
EnsemblGeneIds (GRCh37): ENSG00000157483
OMIM: 601479, Gene2Phenotype
MYO1E is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least four variants reported
Created: 5 Aug 2016, 7:56 a.m.

Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panel
Created: 17 Jun 2016, 9:21 a.m.

Created: 17 Jun 2016, 9:21 a.m.

Panel version: 0.25

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing

Phenotypes

Glomerulosclerosis, focal segmental, 6 614131

OMIM

601479

Clinvar variants

Variants in MYO1E

Penetrance

Complete

Publications

23595123

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: MYO1E were changed from Glomerulosclerosis, focal segmental, 6 614131 to Glomerulosclerosis, focal segmental, 6 614131

17 Aug 2016, Gel status: 4