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
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary spastic paraplegia
- Primary ovarian insufficiency
- Early onset or syndromic epilepsy
- Hereditary ataxia
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Adult onset leukodystrophy
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
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