Inherited bleeding disorders
Gene: MYH9EnsemblGeneIds (GRCh38): ENSG00000100345
EnsemblGeneIds (GRCh37): ENSG00000100345
OMIM: 160775, Gene2Phenotype
MYH9 is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
May-Hegglin and other MYH9 disorders
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
May-Hegglin and other MYH9 disorders
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- May-Hegglin and other MYH9 disorders
- 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
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Added New Source
Louise Daugherty (Genomics England Curator)MYH9 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)MYH9 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
Created
Ellen McDonagh (Genomics England Curator)MYH9 was created by ellenmcdonagh