Haematuria
Gene: MYH9
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:155100Created: 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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure
Publications
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.
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
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
Publications for gene: MYH9 were set to 10973259
Source NHS GMS was added to MYH9. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for MYH9 were set to Macrothrombocytopaenia; leukocyte inclusion bodies; sensorineural deafness; proteinuria; haematuria; cataracts; renal failure
Publications for MYH9 were set to 10973259
This gene has been classified as Green List (High Evidence).
MYH9 was added to Familial haematuriapanel. Sources: Eligibility statement prior genetic testing