Cytopenias and congenital anaemias
Gene: MYH9EnsemblGeneIds (GRCh38): ENSG00000100345
EnsemblGeneIds (GRCh37): ENSG00000100345
OMIM: 160775, Gene2Phenotype
MYH9 is in 14 panels
1 review
Arianna Tucci (Genomics England Curator)
The phenotype is not relevant for this panel - add to the bleeding disorder panel?Created: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
May-Hegglin anomaly, 155100; Fechtner syndrome, 153640; Sebastian syndrome, 605249; Deafness, autosomal dominant 17, 603622; Epstein syndrome, 153650; Macrothrombocytopenia and progressive sensorineural deafness, 600208
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- May-Hegglin anomaly, 155100Fechtner syndrome, 153640Sebastian syndrome, 605249Deafness, autosomal dominant 17, 603622Epstein syndrome, 153650Macrothrombocytopenia and progressive sensorineural deafness, 600208
- OMIM
- 160775
- Clinvar variants
- Variants in MYH9
- Penetrance
- Complete
- 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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)MYH9 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red Model of inheritance for gene MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created
Louise Daugherty (Genomics England Curator)MYH9 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)MYH9 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen