Proteinuric renal disease
Gene: MYH9
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: MYH9; Suggested initial gene rating: green; Evidence for inclusion: PMID: 12792306; 22627578; Other comments: Multiple reports in the literature.Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epstein syndrome #153650; Fechtner syndrome #153640
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MYH9-related disease. characterized by macrothrombocytopenia with giant platelets and leukocyte inclusion bodies or as syndromic forms combining these hematological features with deafness and/or nephropathy and/or cataracts.
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Phenotypic overlap with Alport syndromeCreated: 27 May 2016, 12:30 p.m.
Deletion of C-terminal domain is sufficient to cause disease.Created: 7 Oct 2015, 12:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; cataracts; renal failure
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: MYH9 were changed from to Epstein syndrome #153650; Fechtner syndrome #153640
Publications for gene: MYH9 were set to
Source NHS GMS was added to MYH9. 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 MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
MYH9 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
MYH9 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing