IDUA

iduronidase, alpha-L-
OMIM: 252800
PanelMode of inheritanceDetails
8 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MPS I, Hurler, Scheie disease (Mucopolysaccharidoses), Mucopolysaccharidosis type 1H/S, Mucopolysaccharidosis type 1S, Mucopolysaccharidosis Is, 607016, Hurler syndrome, Mucopolysaccharidosis Ih/s, 607015, Scheie syndrome, Mucopolysaccharidosis, Type I, Hurler-Scheie syndrome, Mucopolysaccharidosis Ih, 607014, Mucopolysaccharidosis type 1H
R-numbers: R100
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
607016, Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014, 607014
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 1H/S 607015, MUCOPOLYSACCHARIDOSIS TYPE 1S 607016, MUCOPOLYSACCHARIDOSIS TYPE 1H 607014
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 1H, MUCOPOLYSACCHARIDOSIS TYPE 1H/S, MUCOPOLYSACCHARIDOSIS TYPE 1S
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hurler syndrome, Mucopolysaccharidosis type 1H/S, MPS I, Hurler, Scheie disease (Mucopolysaccharidoses), Scheie syndrome, Hurler-Scheie syndrome, Mucopolysaccharidosis type 1S, Mucopolysaccharidosis type 1H, Mucopolysaccharidosis Ih/s, 607015, Mucopolysaccharidosis, Type I, Mucopolysaccharidosis Is, 607016, Mucopolysaccharidosis Ih, 607014
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis Ih, 607014Mucopolysaccharidosis Is, 607016Mucopolysaccharidosis Ih/s, 607015, MUCOPOLYSACCHARIDOSIS TYPE 1S (MPS1S)
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis Ih 607014, Mucopolysaccharidosis Is 607016, Mucopolysaccharidosis Ih/s 607015
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis Ih 607014, Mucopolysaccharidosis Is 607016, Mucopolysaccharidosis Ih/s 607015