Hereditary neuropathyGene: GLE1
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.
Only two families
Created: 6 Jun 2019, 10:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death.
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
Publications for gene: GLE1 were set to
Mode of inheritance for gene: GLE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to GLE1.
gene: GLE1 was added gene: GLE1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: GLE1 was set to