Mucopolysaccharideosis, Gaucher, Fabry
Gene: IDUAComment when marking as ready: Green gene, with a green review and is a confirmed gene on G2P for Mucopolysaccharidosis type 1H, Mucopolysaccharidosis type 1H/S, Mucopolysaccharidosis type 1S. Mode of inheritance confirmed on G2P and OMIM.Created: 29 Feb 2016, 6:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome
Phenotypes for IDUA were set to Mucopolysaccharidosis Ih, 607014; Mucopolysaccharidosis type 1H; Mucopolysaccharidosis type 1S; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis type 1H/S; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis, Type I; Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome
This gene has been classified as Green List (High Evidence).
Phenotypes for IDUA were set to Mucopolysaccharidosis Ih, 607014; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis, Type I; Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome
IDUA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Emory Genetics Laboratory
Model of inheritance for gene IDUA was changed to BIALLELIC, autosomal or pseudoautosomal
IDUA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services
IDUA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen