Panel | Mode of inheritance | Details |
---|---|---|
11 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes white matter abnormality |
R-numbers: R57 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GM1-gangliosidosis, type III, 230650 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GM1-GANGLIOSIDOSIS TYPE 1 230500, MUCOPOLYSACCHARIDOSIS TYPE 4B 253010, GM1-GANGLIOSIDOSIS TYPE 2 230600, GM1-GANGLIOSIDOSIS TYPE 3 230650 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GM1-gangliosidosis, type II, 230600, seizures |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GM1-GANGLIOSIDOSIS TYPE 1, GM1-GANGLIOSIDOSIS TYPE 2, GM1-GANGLIOSIDOSIS TYPE 3, MUCOPOLYSACCHARIDOSIS TYPE 4B |
R-numbers: R288 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GM1-gangliosidosis, type I, 230500GM1-gangliosidosis, type II, 230600GM1-gangliosidosis, type III, 230650Mucopolysaccharidosis type IVB (Morquio), 253010, MUCOPOLYSACCHARIDOSIS TYPE 4B (MPS4B) |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4B, MPS IVB, Morquio B disease (MPS IV, Morquio disease), Mucopolysaccharidosis type IVB (Morquio), 253010, GM1-gangliosidosis (Sphingolipidoses), GM1-gangliosidosis, type II, 230600, GM1-gangliosidosis, type III, 230650, Mucopolysaccharidosis, Type IV, Mucopolysaccharidosis Type IVB, GM1-gangliosidosis, type I, 230500 |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mucopolysaccharidosis type IVB (Morquio) OMIM:253010, mucopolysaccharidosis type 4B MONDO:0009660, GM1-gangliosidosis, type III OMIM:230650, GM1 gangliosidosis type 3 MONDO:0009262, GM1-gangliosidosis, type I OMIM:230500, GM1 gangliosidosis type 1 MONDO:0009260, GM1-gangliosidosis, type II OMIM:230600, GM1 gangliosidosis type 2 MONDO:0009261 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GM1-gangliosidosis, type II 230600, GM1-gangliosidosis, type I 230500, GM1-gangliosidosis, type III 230650, Mucopolysaccharidosis type IVB (Morquio) 253010 |
Component of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GM1-gangliosidosis, type I, OMIM:230500, GM1-gangliosidosis, type II, OMIM:230600 |