This Panel is marked as Internal
Early onset pancytopenia and red cell disorders
Gene: MYH9
MYH9 (myosin heavy chain 9)
EnsemblGeneIds (GRCh38): ENSG00000100345
EnsemblGeneIds (GRCh37): ENSG00000100345
OMIM: 160775, Gene2Phenotype
MYH9 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000100345
EnsemblGeneIds (GRCh37): ENSG00000100345
OMIM: 160775, Gene2Phenotype
MYH9 is in 14 panels
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Details
- Sources
-
- 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
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MYH9 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
25 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MYH9 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Radboud University Medical Center, Nijmegen