Renal and urinary tract disorders
Gene: MYH9

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 5 Aug 2016, 7:44 a.m.

Comment on phenotypes: Also associated with Deafness, autosomal dominant 17 603622,
Macrothrombocytopenia and progressive sensorineural deafness 600208, May-Hegglin anomaly 155100 and
Sebastian syndrome 605249

Created: 5 Aug 2016, 7:44 a.m.

Created: 5 Aug 2016, 7:44 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.226

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Fechtner syndrome 153640
Epstein syndrome 153650

OMIM

160775

Clinvar variants

Variants in MYH9

Penetrance

None

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on phenotypes: Also as

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MYH9 was added gene: MYH9 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH9 were set to Fechtner syndrome 153640; Epstein syndrome 153650

Renal and urinary tract disorders Gene: MYH9