Hereditary spastic paraplegia
Gene: EIF2B5EnsemblGeneIds (GRCh38): ENSG00000145191
EnsemblGeneIds (GRCh37): ENSG00000145191
OMIM: 603945, Gene2Phenotype
EIF2B5 is in 12 panels
1 review
Chris Buxton (North Bristol NHS Trust)
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 listCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- progressive cerebellar ataxia
- spasticity
- cognitive impairment
- OMIM
- 603945
- Clinvar variants
- Variants in EIF2B5
- Penetrance
- unknown
- Publications
-
- See OMIM https://www.omim.org/entry/603896
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary spastic paraplegia
- Primary ovarian insufficiency
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Early onset or syndromic epilepsy
History Filter Activity
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