Activity
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9 actions
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| GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v1.2 | GLB1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #230500, #230600, #230650 & #253010), and these OMIM records were last accessed on 19 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v1.2 | GLB1 | Achchuthan Shanmugasundram Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type I, OMIM:230500; GM1-gangliosidosis, type II, OMIM:230600; GM1-gangliosidosis, type III, OMIM:230650; Mucopolysaccharidosis type IVB (Morquio), OMIM:253010; GM1 gangliosidosis, MONDO:0018149; mucopolysaccharidosis type 4B, MONDO:0009660 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v1.1 | Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v1.0 | Eleanor Williams promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v0.3 | Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v0.1 | GLB1 | Achchuthan Shanmugasundram reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v0.1 | GLB1 |
Achchuthan Shanmugasundram gene: GLB1 was added gene: GLB1 was added to GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB v0.0 |
Achchuthan Shanmugasundram Added Panel GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB Set list of related panels to R288 Set panel types to: GMS Rare Disease |
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