Genomics England

MYH9

myosin heavy chain 9

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Epstein syndrome, Fechtner syndrome
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes 155100, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622, SEBASTIAN SYNDROME 155100, MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 155100, EPSTEIN SYNDROME 155100, MAY-HEGGLIN ANOMALY 155100, FECHTNER SYNDROME 155100
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes SEBASTIAN SYNDROME, DEAFNESS AUTOSOMAL DOMINANT TYPE 17, EPSTEIN SYNDROME, FECHTNER SYNDROME, MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS, MAY-HEGGLIN ANOMALY
Green in Haematuria Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R194 Signed-off version 2.14	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.57	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Nonsyndromic Hearing Loss, Dominant, May-Hegglin anomaly, 155100, Fechtner syndrome, 153640, Sebastian syndrome, 605249, Deafness, autosomal dominant 17, 603622, Epstein syndrome, 153650, Macrothrombocytopenia and progressive sensorineural deafness, 600208
Green in Proteinuric renal disease Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R195 Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Epstein syndrome #153650, Fechtner syndrome #153640