Mucopolysaccharideosis, Gaucher, FabryGene: GLB1
Comment when marking as ready: Green gene with a green review, and a confirmed DD gene. Mode of inheritance confirmed on G2P and OMIM.
Created: 29 Feb 2016, 5:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
GM1-gangliosidosis type I; GM1-gangliosidosis type II; GM1-gangliosidosis type III; Mucopolysaccharidosis type IVB
This gene has been classified as Green List (High Evidence).
Phenotypes for GLB1 were set to GM1-gangliosidosis, type I, 230500; GM1-gangliosidosis, type II, 230600; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis type IVB (Morquio), 253010; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis Type IVB; MUCOPOLYSACCHARIDOSIS TYPE 4B
GLB1 was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Emory Genetics Laboratory
Model of inheritance for gene GLB1 was changed to BIALLELIC, autosomal or pseudoautosomal
GLB1 was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services
GLB1 was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen