| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v0.0 | SLC17A5 |
Zornitza Stark gene: SLC17A5 was added gene: SLC17A5 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: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile 269920 |
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