| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.0 | GLB1 | Gene migrated from ENSG00000170266 to ENSG00000170266 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | GLB1 |
Zornitza Stark gene: GLB1 was added gene: GLB1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type II 230600; GM1-gangliosidosis, type III 230650; Mucopolysaccharidosis type IVB (Morquio) 253010; GM1-gangliosidosis, type I 230500 |
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