Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Component of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature, Galloway-Mowat syndrome 1, 251300 |
R-numbers: R57 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Galloway-Mowat syndrome 1, 251300 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Galloway-Mowat syndrome 1, 251300 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME, Galloway-Mowat syndrome 1, 251300 |
R-numbers: R54 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Galloway-Mowat Syndrome 1, 251300, Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME, Galloway-Mowat syndrome 1, 251300 |
Green in Proteinuric renal diseaseComponent of the following Super Panels:
R-numbers: R195 Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Galloway-Mowat syndrome 1 #251300 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Galloway-Mowat syndrome, 251300 |