Prepair 500+
Gene: GLB1
GM1-gangliosidosis
Well established gene disease associaton.
The phenotypic spectrum of GM1 gangliosidosis is classified based on age of onset: Type I (infantile - <12 months age), Type II (late-infantile and juvenile) and Type III (adult). The clinical manifestations are variable and may include intellectual disability, cerebral degeneration, developmental delay, gait disturbance, kyphosis, scoliosis, joint stiffness, hepatomegaly, splenomegaly, facial dysmorphism and/or short stature. Functional studies are present and animal models.
Disease severity reported to be correlated with residual enzyme activity - <2% Infantile, ~2.65-3.05% (Juvenile), 4.24-7.28% (adult), with distinct pathogenic variant profiles. Reported variants in population that cause reduction in enzymatic activity, but not to the level of an individual displaying phenotype (PMID: 32219518).
Mucopolysaccharidosis type IVB (Morquio)
Falls within the spectrum of GLB1-related disorders, but unlike GM1 gangliosidosis, the disease is less severe, with primarily skeletal features, corneal clouding, but absence of neurological features including intellectual disability.
Functional studies are present and animal models. Onset commonly reported in childhood. Trp273Leu is most common variant (likely founder).Created: 31 Oct 2024, 12:09 a.m. | Last Modified: 31 Oct 2024, 12:09 a.m.
Panel Version: 1.521
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM#230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Publications
Gene: glb1 has been classified as Green List (High Evidence).
Phenotypes for gene: GLB1 were changed from Mucopolysaccharidosis type IVB (Morquio), 253010 (3) to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM#230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Publications for gene: GLB1 were set to
gene: GLB1 was added gene: GLB1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis type IVB (Morquio), 253010 (3)