Proteinuric renal disease
Gene: MYO1EEnsemblGeneIds (GRCh38): ENSG00000157483
EnsemblGeneIds (GRCh37): ENSG00000157483
OMIM: 601479, Gene2Phenotype
MYO1E is in 2 panels
4 reviews
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: MYO1E; Suggested initial gene rating: green; Evidence for inclusion: PMID: 23595123; PMID:21697813; Other comments: Multiple reports of patients with SRNS and rare homozygous/compound het variants in MYO1E. No positive cases detected in >600 SRNS referralsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glomerulosclerosis, focal segmental, 6 #614131
Publications
Variants in this GENE are reported as part of current diagnostic practice
Daniel Gale (UCL)
Ellen Thomas (Genomics England Curator)
Comment on list classification: 3 families reportedCreated: 27 May 2016, 12:36 p.m.
Maggie Williams (North Bristol NHS Trust)
Currently on UK diagnostic panel, some VUS detected, no clear positive, over 300 tested
Listed in several reviewsCreated: 19 Oct 2015, 2:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Familial SRNS
Publications
- Kidney International (2011) 80, 389–396
- N Engl J Med. 2011 July 28
- 365(4): 295–306
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Glomerulosclerosis, focal segmental, 6 #614131
- OMIM
- 601479
- Clinvar variants
- Variants in MYO1E
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: MYO1E were changed from to Glomerulosclerosis, focal segmental, 6 #614131
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: MYO1E were set to PMID: 21697813
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to MYO1E. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for MYO1E was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for MYO1E were set to PMID: 21697813
Added New Source
Ellen McDonagh (Genomics England Curator)MYO1E was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)MYO1E was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing