MYH9

myosin heavy chain 9
OMIM: 160775
PanelMode of inheritanceDetails
8 panels
R-numbers: R90
Signed-off version 1.2
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 Cataracts
R-numbers: R31
Signed-off version 2.76
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epstein syndrome, Fechtner syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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
R-numbers: R21
Signed-off version 1.92
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
R-numbers: R194
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Macrothrombocytopaenia, leukocyte inclusion bodies, sensorineural deafness, proteinuria, haematuria, cataracts, renal failure, Epstein syndrome, 153650, Fechtner syndrome, 153640
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
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
R-numbers: R195
Signed-off version 2.32
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epstein syndrome #153650, Fechtner syndrome #153640
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epstein syndrome 153650, Fechtner syndrome 153640