Hereditary spastic paraplegia

Gene: EIF2B5

No list

EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon)
EnsemblGeneIds (GRCh38): ENSG00000145191
EnsemblGeneIds (GRCh37): ENSG00000145191
OMIM: 603945, Gene2Phenotype
EIF2B5 is in 11 panels

1 review

Chris Buxton (North Bristol NHS Trust)

I don't know

Curerntly diagnostic on Sheffield's HSP panel.
Vanishing white matter leukodystrophy: Phenotype could be theoretically interpreted as HSP in an infant? so maybe only consider for Child onset HSP panel.
HGMD mostly lists missense variants
Sources: Expert list
Created: 27 Mar 2019, 4:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
progressive cerebellar ataxia; spasticity; cognitive impairment

Publications

  • See OMIM https://www.omim.org/entry/603896

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

27 Mar 2019, Gel status: 0

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

Chris Buxton (North Bristol NHS Trust)

gene: EIF2B5 was added gene: EIF2B5 was added to Hereditary spastic paraplegia. Sources: Expert list Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B5 were set to See OMIM https://www.omim.org/entry/603896 Phenotypes for gene: EIF2B5 were set to progressive cerebellar ataxia; spasticity; cognitive impairment Penetrance for gene: EIF2B5 were set to unknown Mode of pathogenicity for gene: EIF2B5 was set to Other Review for gene: EIF2B5 was set to AMBER gene: EIF2B5 was marked as current diagnostic