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Hereditary Neuropathy_CMT - isolated v0.6 RBM7 Bryony Thompson Marked gene: RBM7 as ready
Hereditary Neuropathy_CMT - isolated v0.6 RBM7 Bryony Thompson Gene: rbm7 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.6 RBM7 Bryony Thompson Classified gene: RBM7 as Amber List (moderate evidence)
Hereditary Neuropathy_CMT - isolated v0.6 RBM7 Bryony Thompson Gene: rbm7 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy_CMT - isolated v0.5 RBM7 Bryony Thompson gene: RBM7 was added
gene: RBM7 was added to Hereditary Neuropathy - isolated_RMH. Sources: Expert list
Mode of inheritance for gene: RBM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM7 were set to 27193168
Phenotypes for gene: RBM7 were set to SMA-like spinal motor neuropathy; dHMN/dSMA
Review for gene: RBM7 was set to AMBER
Added comment: Single case with a homozygote variant, with functional assays in patient fibroblasts. Also, supporting zebrafish model.
Sources: Expert list