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Hereditary neuropathy or pain disorder v0.1 | GLE1 |
Ellen McDonagh gene: GLE1 was added gene: GLE1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLE1 were set to 18204449 Phenotypes for gene: GLE1 were set to Lethal congenital contracture syndrome 1, 253310; Congenital arthrogryposis with anterior horn cell disease, 611890; Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death |