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Paediatric or syndromic cardiomyopathy v1.67 GLB1 Ivone Leong commented on gene: GLB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v1.66 GLB1 Ivone Leong Source Expert Review Amber was added to GLB1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v0.16 GLB1 Ivone Leong reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.15 GLB1 Ivone Leong Source NHS GMS was added to GLB1.
Paediatric or syndromic cardiomyopathy v0.1 GLB1 Ivone Leong gene: GLB1 was added
gene: GLB1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLB1 were set to 27604308
Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type I, 230500; Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis (Sphingolipidoses); syndromic HCM; Mucopolysaccharidosis Type IVB; GM1-gangliosidosis, type II, 230600; MUCOPOLYSACCHARIDOSIS TYPE 4B; MPS IVB, Morquio B disease (MPS IV, Morquio disease); GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis, Type IV