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| Hereditary neuropathy or pain disorder v0.1 | GJB1 |
Ellen McDonagh gene: GJB1 was added gene: GJB1 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: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GJB1 were set to 8266101 Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth, X-linked; Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800 |
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