Proteinuric renal disease
Gene: MYO1E
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
Comment on list classification: 3 families reportedCreated: 27 May 2016, 12:36 p.m.
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
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: MYO1E were changed from to Glomerulosclerosis, focal segmental, 6 #614131
Publications for gene: MYO1E were set to PMID: 21697813
Source NHS GMS was added to MYO1E. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MYO1E was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for MYO1E were set to PMID: 21697813
MYO1E was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
MYO1E was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing