Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
R-numbers: R31 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Epstein syndrome, Fechtner syndrome |
Green in Bleeding and platelet disordersR-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 DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | 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 anomaliesR-numbers: R21, R412 Signed-off version 4.0 | 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 HaematuriaR-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 Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.50 | 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 diseaseR-numbers: R195 Signed-off version 4.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Epstein syndrome #153650, Fechtner syndrome #153640 |
R-numbers: R257 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Epstein syndrome 153650, Fechtner syndrome 153640 |