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| Hereditary neuropathy or pain disorder v0.1 | MPZ |
Ellen McDonagh gene: MPZ was added gene: MPZ was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MPZ were set to Neuropathy, congenital hypomyelinating, 605253; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, dominant intermediate D, 607791; Roussy Levy syndrome, 180800; Charcot Marie Tooth disease, type 2J, 607736; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677 |
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