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| Lysosomal storage disorder v1.28 | GLB1 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.28 | GLB1 | Sarah Leigh Added comment: Comment on phenotypes: Mucopolysaccharidosis type IVB (Morquio) OMIM:253010;mucopolysaccharidosis type 4B MONDO:0009660;GM1-gangliosidosis, type III OMIM:230650;GM1 gangliosidosis type 3 MONDO:0009262;GM1-gangliosidosis, type I OMIM:230500;GM1 gangliosidosis type 1 MONDO:0009260;GM1-gangliosidosis, type II OMIM:230600;GM1 gangliosidosis type 2 MONDO:0009261 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.28 | GLB1 | Sarah Leigh Phenotypes for gene: GLB1 were changed from Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type III 230650; GM1-gangliosidosis, type I 230500; GM1-gangliosidosis, type II 230600 to Mucopolysaccharidosis type IVB (Morquio) OMIM:253010; mucopolysaccharidosis type 4B MONDO:0009660; GM1-gangliosidosis, type III OMIM:230650; GM1 gangliosidosis type 3 MONDO:0009262; GM1-gangliosidosis, type I OMIM:230500; GM1 gangliosidosis type 1 MONDO:0009260; GM1-gangliosidosis, type II OMIM:230600; GM1 gangliosidosis type 2 MONDO:0009261 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.6 | GLB1 | Carol Hardy Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.6 | GLB1 | Carol Hardy Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | GLB1 | Emma Ashton reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | GLB1 | Carol Hardy reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GM1-gangliosidosis, type I 230500, GM1-gangliosidosis, type II 230600, GM1-gangliosidosis, type III 230650, Mucopolysaccharidosis type IVB (Morquio) 253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | GLB1 |
Ivone Leong gene: GLB1 was added gene: GLB1 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS 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; GM1-gangliosidosis, type III 230650; GM1-gangliosidosis, type I 230500; GM1-gangliosidosis, type II 230600 |
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