| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v0.0 | NLRP3 |
Zornitza Stark gene: NLRP3 was added gene: NLRP3 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: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NLRP3 were set to Chronic infantile neurologic cutaneous articular syndrome (CINA) - 607115; CINCA (Infantile-onset multisystem inflammatory disease) 607115 |
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