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  2. Hereditary Neuropathy_CMT - isolated
  3. RBM7
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Hereditary Neuropathy_CMT - isolated

Gene: RBM7

Amber List (moderate evidence)
RBM7 (RNA binding motif protein 7)
EnsemblGeneIds (GRCh38): ENSG00000076053
EnsemblGeneIds (GRCh37): ENSG00000076053
OMIM: 612413, Gene2Phenotype
RBM7 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Single case with a homozygote variant, with functional assays in patient fibroblasts. Also, supporting zebrafish model.
Sources: Expert list
Created: 23 Mar 2020, 3:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SMA-like spinal motor neuropathy; dHMN/dSMA

Publications

Created: 23 Mar 2020, 3:52 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • SMA-like spinal motor neuropathy
  • dHMN/dSMA
OMIM
612413
Clinvar variants
Variants in RBM7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rbm7 has been classified as Amber List (Moderate Evidence).

23 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rbm7 has been classified as Amber List (Moderate Evidence).

23 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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