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Hereditary neuropathy or pain disorder v0.1 | SBF2 |
Ellen McDonagh gene: SBF2 was added gene: SBF2 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 Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SBF2 were set to 17855448; 12554688 Phenotypes for gene: SBF2 were set to Charcot Marie Tooth disease, type 4B2, 604563 |