Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
R-numbers: R60 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type III, 258501, Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Costeff syndrome, 3-methylglutaconic aciduria, type III, 258501 |
R-numbers: R31 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes 3-methylglutaconic aciduria, type III, 258501, autosomal dominant optic atrophy with cataract (ADOAC) |
R-numbers: R57 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type III, 258501 |
R-numbers: R61 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type III, 258501, Costeff syndrome |
R-numbers: R54 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Optic atrophy 3 with cataract, 165300, 3-methylglutaconic aciduria, type III, 258501, 3-methylglutaconic aciduria type III, 258501, Costeff syndrome |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type III, 258501, Costeff syndrome, Cognitive regression |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias), 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Autosomal Dominant Optic Atrophy, optic atrophy and cataracts, Optic atrophy 3 with cataract |
R-numbers: R63 Signed-off version 3.105 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes 3-methylglutaconic aciduria, type III, 258501, Optic atrophy 3 with cataract, 165300 |