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  3. MYH9
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Unexplained kidney failure in young people

Gene: MYH9

Green List (high evidence)
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: 0.226

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
Phenotypes
  • Epstein syndrome 153650
  • Fechtner syndrome 153640
OMIM
160775
Clinvar variants
Variants in MYH9
Penetrance
Complete
Panels with this gene

History Filter Activity

17 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

5 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MYH9 were set to Epstein syndrome 153650; Fechtner syndrome 153640

5 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

MYH9 was added to Unexplained kidney failure in young peoplepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

27 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MYH9 were set to Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness, 600208; proteinuria; haematuria; cataracts; renal failure; Epstein syndrome 153650; Fechtner syndrome 153640

16 May 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 May 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MYH9 were set to ; Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure; Epstein syndrome 153650; Fechtner syndrome 153640

16 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

MYH9 was added to Unexplained kidney failure in young peoplepanel. Source: Expert Review Green

16 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

MYH9 was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing

16 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

MYH9 was created by sleigh