Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 2 309900 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 2 |
Green in HydrocephalusR-numbers: R86 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Mucopolysaccharidosis II, OMIM:309900 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mucopolysaccharidosis II, 309900, MUCOPOLYSACCHARIDOSIS TYPE 2 (MPS2) |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 2, MPS II, Hunter disease (Mucopolysaccharidoses), Mucopolysaccharidosis II, 309900, Mucopolysaccharidosis Type II |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mucopolysaccharidosis II OMIM:309900, mucopolysaccharidosis type 2 MONDO:0010674 |
Green in Mucopolysaccharidosis type IIR-numbers: R278 Signed-off version 1.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes |
R-numbers: R100 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900, 309900 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mucopolysaccharidosis II 309900 |