Haematuria

Gene: MYH9

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

• PMID: 12792306
• 22627578

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

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

• PubMed: 10973259

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.