| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.0 | PSPH | Gene migrated from ENSG00000146733 to ENSG00000146733 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | PSPH |
Zornitza Stark gene: PSPH was added gene: PSPH was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency 614023 |
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