| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.0 | CTSC | Gene migrated from ENSG00000109861 to ENSG00000109861 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | CTSC |
Zornitza Stark gene: CTSC was added gene: CTSC 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: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 26205983; 15727652; 24966751 Phenotypes for gene: CTSC were set to Haim-Munk syndrome 245010,; Haim-Munk syndrome 245010 |
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