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| Hypertrophic cardiomyopathy v1.53 | GLB1 | Rebecca Whittington commented on gene: GLB1: GM1-gangliosidosis, type I, II, III (230500, 230600, 230650) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.52 | GLB1 | Rebecca Whittington commented on gene: GLB1: OMIM: only listed with HCM/DCM in GM1-gangliosidosis, type I - infantile form (not type II or III or Morquio disease) https://omim.org/entry/230500. But quite a few of the pathogenic classed variants on HGMD are associated with the infantile form. But cardiomyopathy only seen in a subset of patients not a key feature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.51 | GLB1 | Rebecca Whittington reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.45 | GLB1 |
Ellen McDonagh Source South West GLH was added to GLB1. Mode of inheritance for gene GLB1 was changed from to BIALLELIC, autosomal or pseudoautosomal |
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