Proteinuric renal disease
Gene: MYH9EnsemblGeneIds (GRCh38): ENSG00000100345
EnsemblGeneIds (GRCh37): ENSG00000100345
OMIM: 160775, Gene2Phenotype
MYH9 is in 14 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: 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
Maggie Williams (North Bristol NHS Trust)
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
- HUMAN MUTATION, Vol. 35, No. 2, 236–247, 2014
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: Phenotypic overlap with Alport syndromeCreated: 27 May 2016, 12:30 p.m.
Daniel Gale (UCL)
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
- PubMed: 10973259
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Epstein syndrome #153650
- Fechtner syndrome #153640
- OMIM
- 160775
- Clinvar variants
- Variants in MYH9
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Unexplained kidney failure in young people
- Bleeding and platelet disorders
- DDG2P
- Structural eye disease
- Haematuria
- Monogenic hearing loss
- Intellectual disability
- Inherited bleeding disorders
- Fetal anomalies
- Proteinuric renal disease
- COVID-19 research
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: MYH9 were changed from to Epstein syndrome #153650; Fechtner syndrome #153640
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: MYH9 were set to
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to MYH9. 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 MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MYH9 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)MYH9 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing