Haematuria

Gene: MYH9

Green List (high evidence)

MYH9 (myosin heavy chain 9)
EnsemblGeneIds (GRCh38): ENSG00000100345
EnsemblGeneIds (GRCh37): ENSG00000100345
OMIM: 160775, Gene2Phenotype
MYH9 is in 17 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Note, Epstein syndrome #153650 and Fechtner syndrome #153640 have been merged by OMIM into Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100
Created: 10 Mar 2021, 5:15 p.m. | Last Modified: 10 Mar 2021, 5:15 p.m.
Panel Version: 2.10
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, Febuary 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: MYH9; Suggested initial gene rating: Green; Evidence for inclusion: PMID: 12792306; 22627578; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided;
Created: 3 Feb 2019, 3:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epstein syndrome #153650; Fechtner syndrome #153640

Publications

Variants in this GENE are reported as part of current diagnostic practice

Daniel Gale (UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure

Publications

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: Promote to green because this gene causes an overlapping phenotype.
Created: 29 Jan 2016, 12:57 p.m.
Comment on list classification: Monoallelic mutations cause Fechtner syndrome, which includes clinical features overlapping with Alport syndrome.
Created: 29 Jan 2016, 12:49 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100
OMIM
160775
Clinvar variants
Variants in MYH9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: MYH9 were changed from Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure; Epstein syndrome, 153650; Fechtner syndrome, 153640 to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100

17 Jun 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: MYH9 were changed from Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure to Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure; Epstein syndrome, 153650; Fechtner syndrome, 153640

17 Jun 2019, Gel status: 4

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: MYH9 were set to 10973259

3 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to MYH9. Rating Changed from Green List (high evidence) to Green List (high evidence)

24 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

29 Jan 2016, Gel status: 4

Set Phenotypes

Ellen Thomas (Genomics England Curator)

Phenotypes for MYH9 were set to Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure

29 Jan 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for MYH9 were set to 10973259

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

28 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH9 was added to Familial haematuriapanel. Sources: Eligibility statement prior genetic testing