Groopman et al 2019 - Genes with diagnostic variants
Gene: MYH9

MYH9 (myosin heavy chain 9)
EnsemblGeneIds (GRCh38): ENSG00000100345
EnsemblGeneIds (GRCh37): ENSG00000100345
OMIM: 160775, Gene2Phenotype
MYH9 is in 14 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: MYH9; Inheritance: AD; Clinical diagnosis: Nephropathy of unknown origin; Genetic diagnosis: Epstein syndrome; Fechtner syndrome; OMIM phenotype MIM No.: 153650; 153640; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Expert review red
Literature

Phenotypes

Fechtner syndrome
Epstein syndrome
Nephropathy of unknown origin
153640
MIM 153650

OMIM

160775

Clinvar variants

Variants in MYH9

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to MYH9.

2 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: MYH9 was added gene: MYH9 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH9 were set to Fechtner syndrome; Epstein syndrome; Nephropathy of unknown origin; 153640; MIM 153650

Groopman et al 2019 - Genes with diagnostic variants Gene: MYH9