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Hereditary neuropathy v1.300 | GLE1 | Louise Daugherty reviewed gene: GLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.213 | GLE1 | Louise Daugherty Phenotypes for gene: GLE1 were changed from 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.212 | GLE1 | Louise Daugherty Publications for gene: GLE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.211 | GLE1 | Louise Daugherty Mode of inheritance for gene: GLE1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.121 | GLE1 | Alexander Rossor reviewed gene: GLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: 18204449; Phenotypes: Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.119 | GLE1 | Louise Daugherty Source NHS GMS was added to GLE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.118 | GLE1 |
Louise Daugherty gene: GLE1 was added gene: GLE1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: GLE1 was set to |