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Hereditary neuropathy or pain disorder v0.1 | CCT5 |
Ellen McDonagh gene: CCT5 was added gene: CCT5 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,UKGTN,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCT5 were set to 16399879 Phenotypes for gene: CCT5 were set to Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia, 256840 |